Krystal Biotech Whitney Ijem was tapped to serve as the first Senior Vice President, Strategy and Business Development at Krystal Biotech. Ijem joins Krystal fromGuggenheim Securities, where she served as Managing Director and Senior Biotechnology Analyst covering genetic medicine and rare disease companies. Prior tojoining Guggenheim, Ijem was a therapeutics analyst atTourbillon Capitaland before that she was an analyst in theJ.P. Morgan Equity Research Healthcaregroup focused on biotechnology.

Viroclinics Biosciences Netherlands-based Viroclinics Bioscience B.V.named Davide Molho as its new chief executive officer. Molho succeeds Bob van Gemen, who has served as the company's CEO since 2011. This transition is part of a planned succession strategy. Molho's appointment takes effect on Aug. 1. Molho joins Viroclinics from Evolution Research Group, where he served as CEO. Prior to ERG, he worked for almost two decades at Charles River Laboratories, most recently serving as president and chief operating officer of the global organization. As CEO of Viroclinics, Molho will lead the company through its next phase of growth with a specific focus on driving revenue diversification in adjacent and novel therapeutic fields, as well as continued strategic expansion through acquisitions.

Windtree Therapeutics John Hamill has been appointed chief financial officer of Pennsylvania-based Windtree Therapeutics. In this role, Hamill will help accelerate key initiatives to advance the company's business, financial planning and shareholder value. Hamillis replacing Windtree's former CFO,John Tattorywho is leaving to pursue other opportunities.He most recently provided consulting services to various life science companies, headed up finance at Trevena, Inc., Savient Pharmaceuticals and PharmaNet.

Kronos Bio Barbara Kosacz was named chief operating officer and general counsel of California-based Kronos Bio. Kosacz joins the company with more than 25 years of experience providing strategic and legal advice to life sciences companies, and served most recently as international head of Cooley LLPs Life Sciences Practice. In her role at Kronos, she will be responsible for internal operations and legal functions within the Company. Kosacz is a member of the Board of Directors of XOMA Corporation and is on the Board of Trustees of the Keck Graduate Institute.

Akcea Therapeutics Christophe Hotermans was named senior vice president of global medical affairs at Akcea Therapeutics. In this role, he will lead and evolve the execution of medical strategies, activities and operations worldwide in collaboration with executive management. Prior to joining Akcea, Hotermans served at Biogen for more than a decade in various roles, most recently as vice president and head of U.S. medical. Before Biogen, he was chief of the neurology clinic at the University of LigeinBelgium.

ImmunoGen -- Susan Altschuller has been appointed senior vice president and CFO of ImmunoGen, Inc. Altschuller has 20 years of financial management, investor relations, and business planning experience with leading pharmaceutical and biotechnology companies. She joins ImmunoGen from Alexion Pharmaceuticals where she started as Head of Investor Relations before moving to Head of Enterprise Finance, where she led global financial reporting and provided counsel on investment prioritization to support the companys strategic imperatives. Before Alexion, Altschuller was head of Investor Relations at Bioverativ. Early in her career, Altschuller held positions at Biogen in various functions of increasing responsibility, including investor relations, corporate finance, and commercial finance.

Signifier Medical Technologies Signifier made two key appointments, Matt Sharris as vice president of Sales in North America and Steve Saunders, as head of Sales in EMEA. These appointments follow the company strategy to drive and maximize commercial footprint later into the year in their respective geographies. Sharris was most recently director of Sales and vice president of Payor relations for Regional Home Care, with prior roles within account management and sales for ResMed. Saunders joins Signifier from Philips Respironics, where he held leadership and commercial roles, and worked as a liaison to the U.K. government during the early stages of the COVID crisis. Prior roles have included Sales and Marketing positions for a range of medical technology companies including GE, Siemens, and others.

Qkine U.K.-based Qkine expanded its leadership team with the appointments of Rob Nixon as head of Commercial and Cassie Doherty, Investment Director at Parkwalk, as a new member of the board of directors. Nixon joins after having worked for both world-leading global life science reagent companies Merck Millipore and GE Healthcare Life Science, as well as emerging, fast-growing start-up Jellagen.

Adverum Biotechnologies Thomas Kochy joined the company as vice president, commercial and program strategy. In this new position, Kochywill be responsible for leading commercial planning, product strategy, and program management. Prior to joining Adverum, Kochy served as a strategy consultant in ocular disease areas. Before that, Kochy worked at Genentech from 2004 to 2019, most recently as regional sales director for Actemra and Rituxan Immunology. He also led ophthalmology pipeline strategy and worked on Lucentis.

Homology Medicines Jeff Poulton, CFO of Alnylam, was appointed to the board of directors of Homology Medicines. Poulton brings 25 years of experience to Homologys Board of Directors, including leading finance, business development and commercial operations at companies using differentiated technologies to develop treatments for patients with rare diseases. Prior to his role at Alnylam, Poulton served as CFO at Indigo Agriculture. He previously held various roles of increasing responsibility at Shire Plc, concluding his service as CFO and a member of its executive committee and board of directors.

Cradle Genomics San Diego-based Cradle Genomics expanded its executive team with the additions of Tanya Moreno, as Vice President of Development and Sue Gross, as Chief Medical Officer. Moreno has over 13 years of experience in diagnostics development and the commercialization of genomic tests.Gross has had a distinguished clinical career with roles at Montefiore Einstein, Natera where she was CMO, and most recently at Mount Sinai Hospital and Sema4 where she was the Medical Director for the Reproductive Lab and Clinical Analysis Division.

Parexel Parexel announced the addition of former regulators with significant expertise in oncology, immunotherapy and rare disease to its Regulatory and Access Consultingteam. Yajie Li recently served as Head of Compound Strategy and Pipeline Management Function at Xuanzhu Pharma. Prior to that, she served at Janssen as the Regulatory Affairs Therapeutic Area Director for Infectious Diseases & Vaccines, China Companion Diagnostic Team Leader and the China Compound Team Leader.

Jorge Camarero served at the European Medicines Agency (EMA) in The Netherlands as an alternate member of the Committee for Medicinal Products for Human Use (CHMP) and as a member the Oncology Working Party. Prior to his tenure at the EMA, he was Head of the Oncology Area for the Spanish Agency for Medicines and Medical Devices, a Pharmaceutical Inspector for the Spanish Governments Health Department delegation; and a Regulatory Clinical Assessor in Oncology for Spanish Agency for the AEMPS. Lucas Kempf held multiple positions at the FDAs Center for Drug Evaluation and Research (CDER) and the National Institutes of Health (NIH).

Replimune Group Andrea Pirzkall will assume the role of CMO on Aug. 31 at Replimune Group. Pirzkall will lead clinical development of Replimunes pipeline of next-generation oncolytic immuno-gene therapies for the treatment of cancer. Prior to joiningReplimune, Pirzkall served as Executive Director of Clinical Development at BeiGene. She served also as the global clinical development lead on the BeiGene/Celgene joint development committee. Prior to BeiGene, Pirzkall was a Principal Medical Director atGenentech.

ZIOPHARM Oncology James Huang was named to the companys board of directors. Huang is currently a Managing Partner at Kleiner Perkins Caufield & Byers (KPCB) China and has founded and financed several innovative life sciences companies, including GenScript, Legend Biotech and Zai Lab. He is also Founding Partner of Panacea Venture, which formed TriArm Therapeutics, the funding partner for Ziopharms joint venture, Eden BioCell.

Adaptate Biotherapeutics -- Adaptate Biotherapeutics formed its Scientific Advisory Board.Adrian Hayday will chair the expert team with other key appointments including Gillian Griffiths, John Haurum, Jessica Strid and Sally Ward.

Xilio Therapeutics Paul J. Clancy was named to the Xilio Therapeutics Board of Directors. He currently serves on the boards of Agios Pharmaceuticals and Incyte Corporation. Clancy was CFO for Alexion Pharmaceuticals from July 2017 to October 2019. Prior to that, Clancy was CFO of Biogen.

Cradle Genomics Cradle Genomics expanded its executive team with the additions of Tanya Moreno, as vice president of Development and Sue Gross, as CMO. Moreno has over 13 years of experience in diagnostics development and the commercialization of genomic tests. As the head of clinical sciences, in multiple clinical laboratories, she has led development programs across a broad range of advanced genomic tools to empower patients and physicians with precision medicine. Gross has had a distinguished clinical career with roles at Montefiore Einstein where she was Professor of Obstetrics and Gynecology, Pediatrics and Genetics and most recently at Mount Sinai Hospital and Sema4 where she was the Medical Director for the Reproductive Lab and Clinical Analysis Division.

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Movers & Shakers, July 24 | BioSpace - BioSpace

]]]]]]>]]]]>]]> How can genomics help tackle the Covid-19 pandemic? Credit: Shutterstock.

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In 2003, after 13 years of work and more than 2bn spent, scientists involved in the Human Genome Project mapped the first complete genetic code, or genome, of a human being. This was a huge scientific breakthrough and taught genetics researchers a lot about human genes, the genome and how they interact with health and disease.

As further genomics work was undertaken over the next decade or so, it became evident that genome sequences are most useful when combined with other data about the person who donated their sequence, such as physiological measurements and their past medical records of previous illness and prescribed medication.

By joining up these dots, genomic medicine has the potential to improve understanding about the underlying causes of genetic diseases and predict how a person could respond to certain treatments, helping to find personalised approaches for each individual patient, as well as determining what diseases people are at risk of developing in the future.

With this in mind, the UK Government created Genomics England to coordinate work in the field. Having a centralised approach also mitigates some security concerns around the storage and use of patients incredibly private health data. The UK is an excellent location to push genomics forward. Not only does the country have a strong genetics heritage two British scientists, James Watson and Francis Crick, discovered the double helix structure of DNA in the 1950s but it has a unique resource in the National Health Service (NHS), one of the worlds largest single-payer healthcare systems in the world.

Initially focused on cancer and rare diseases known to have genetic elements, Genomics England has now diversified to look at how genomics can help track the spread of infectious disease. The organisation has joined a national consortium looking to leverage genomics to better tackle the Covid-19 pandemic. The UK has been hit extremely hard by the pandemic so far according toJohn Hopkins Covid-19 map, the UK has the second-highest number of deaths globally.

Before looking at the latest project, its important to reflect on Genomics Englands foundation and mission.

Genomics England was established in 2013 by the Department of Health and Social Care to deliver the 100,000 Genomes Project, which was launched by former Prime Minister David Cameron in late 2012.

Backed by more than 300m in government funding, the 100,000 Genomes Project aimed to create a foundation for a new era of personalised medicine within the NHS by sequencing 100,000 whole genomes from 70,000 patients with rare diseases and cancers.

To support Genomics England with recruitment for the project, NHS England set up 11 Genomic Medicines Centres (GMCs); now there are 13 in England as well as a few more in Wales, Scotland and Northern Ireland as they got on board with the project in the mid-2010s. The GMCs also helped with finding the clinical information needed to inform better interpretation of each persons genome sequence.

From the outset, Genomics England was very aware that it would need to build its own technology to complete the 100,000 Genomes Project. The company decided the best way to do this was to work with innovators in the genomics and sequencing space.

Genomics Englands first partnership was signed with California-headquartered Illumina to develop a sequencing infrastructure. As part of the deal, Illumina invested 162m in this work in the UK over the next four years.

In addition, as part of its 1bn commitment to the UKs genomics industry, the Wellcome Trust agreed to spend 27m on a world-class sequencing hub just outside Cambridge to house Genomics Englands operations. This gave the 100,000 Genomes Project easy access to world leaders in the genomics space, such as the European Bioinformatics Institute and the Sanger Institute.

Within two years of the launch, ten companies moved to collaborate with Genomics England to support and further accelerate the 100,000 Genomes Project. These companies, which included GSK, AstraZeneca, UCB, AbbVie, Roche and Takeda, established the Genomics Expert Network for Enterprises (GENE) Consortium; Big Pharma had to contribute 250,000 to the project in funding to collaborate. The aim was to carry out a year-long industry trial of select whole-genome sequences to establish how industry could leverage the learnings from the 100,000 Genomes Project into drug discovery and development. This initiative was renamed the Discovery Forum in 2017.

Simultaneously, Genomics England launched its Clinical Interpretation Partnership (GeCIP) to find ways to work with clinicians and researchers to directly bring the benefit of the 100,000 Genomes Project to drive diagnosis.

As part of a pilot scheme under the 100,000 Genomes Project, Newcastle University and Hospitals used whole-genome sequencing to reveal that a patients kidney failure was due to a rare genetic variant; this explains why his father, brother and uncle had all died of the same condition.

This diagnosis using genome sequencing meant that the patient could receive personalised treatment for this specific condition. Also, his family members could be tested to find out if they were affected by the same rare genetic kidney disease, rather than face a lifetime of uncertainty.

Hot on the heels of the first patients diagnosed, two children became the first to be genetically diagnosed through the 100,000 Genomes Project via Great Ormond Street Hospital in London. Both have rare, undiagnosed and unknown medical conditions, but due to whole-genome sequencing doctors now know the genetic changes responsible for their conditions.

NHS chief scientific officer Professor Dame Sue Hill said: This is an excellent example of how whole-genome sequencing can finally provide the answers that families have been seeking out for years. This new insight sets them free to make decisions about the treatment options for their child and how they move forward with future plans for their family.

One of the biggest challenges facing delivery of the 100,000 Genomes Project early on was to create a bioinformatics pipeline to analyse and interpret the genomics data. To this end, Genomics England decided to expand its sequencing partnership with Illumina to create informatics tools for use at the NHS GMCs and GeCIP.

This was followed later in 2016 by a deal signed with Ohio-based GenomOncology to improve clinical reporting, particularly in clinical trials, for the 100,000 Genomes Project cancer programme.

In early 2018, Genomics England and the Department of Health and Social Care announced 50,000 whole genomes had been sequenced.

This put Genomics England on track to finish recruitment and scale up operations so the full project could be completed on time by the end of 2018.

As the 100,000 Genomes Project came closer to completion, the newly appointed Secretary of State for Health and Social Care Matt Hancock announced a roadmap for honouring its legacy through continuing work on genomics medicine in the NHS.

Hancock committed to sequencing five million whole genomes by 2024 and bringing access to genetic and genomic testing into mainstream clinical practice through theNHS Genomic Medicine Service. Initially it will focus on cancer and rare diseases, like the 100,000 Genomes Project, but it is expected to evolve and expand to other therapeutic areas as the technology becomes more advanced.

At the same time, Genomics England signed a research agreement with life sciences technology vendor IQVIA. This partnership involves the pair running analytics on patient-consented, de-identified data from the 100,000 Genomes Project to drive more efficient drug research and development, particularly in the field of personalised medicine. These insights could be used by IQVIAs life science customers in parallel with their clinical development programmes.

Secretary of State for Health and Social Care Matt Hancock announced in mid-December 2018 that the 100,000 Genome Project had been completed.

Genomics England chair Sir John Chisholm noted: At launch the 100,000 Genomes Project was a bold ambition to corral the UKs renowned skills in genomic science and combine them with the strengths of a truly national health service to propel the UK into a global leadership position in population genomics.

With this announcement, that ambition has been achieved. The results of this will be felt for many generations to come as the benefits of genomic medicine in the UK unfold.

This project led to one in four participants with rare diseases receiving a diagnosis for the first time, while transforming treatment for up to half of cancer patients who participated.

Although launched at the end of 2018, the NHS Genomic Medicine Service was only expected to be operational in mid-2020.

To allow the new service to hit the ground running, Genomics England expanded its sequencing partnership with Illumina to focus on the next 300,000 whole genomes. All clinical samples for the collaboration will be provided through the NHS Genomic Medicine Service.

This follows the late-2018 deal with Congenica to support clinicians to make informed medical decisions based on insights from whole-genome sequencing. Congenica had previously provided similar sequencing services to the 100,000 Genomes Project.

Although Genomics England has primarily focused on cancer and rare diseases, it is clear that insights from genomics also have a role to play in tackling infectious disease.

In the context of the ongoing Covid-19 pandemic, which has killed more than 40,000 people in the UK to date, Genomics England is carrying out a whole-genome study of 35,000 people with either severe, moderate or mild Covid-19 symptoms to try and discover why this viral disease has such a varied impact on patients.

Genomics England will read the data from entire genomes of those who have been most severely impacted by Covid-19 and compare them to those who only experienced mild symptoms; this genomics data will also be enriched by clinical insights into participants.

The company is working with the GenOMICC consortium, Illumina, the NHS and the University of Edinburgh to carry out this study. The project is backed by 28m in funding from UK Research and Innovation, the Department of Health and Social Care and the National Institute for Health Research.

The aim is for this human genomic data to be linked to the virus genome data being sequenced by the COVID-19 Genomics UK Consortium (COG-UK), which is led by the NHS and the Sanger Institute. This would help to improve insights into how the two genomes interact and affect how the patient responds to the infection, which can feed into better knowledge about promising treatments for clinical trials and practice.

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From rare diseases to Covid-19: charting the history of Genomics England - Pharmaceutical Technology

Victoria Gray, a 34-year-old mother of four in Forest, Miss., had been going to the hospital seven times a year for transfusions to help with the severe pain brought on by her sickle cell disease. In July 2019, she volunteered for a radical new technology known as gene editing. She has been free of the pain and suffering since.

I chose to participate in this trial because of hopehope that it would change my life, Gray tells Barrons. And it has already in so many ways.

Her successful treatment gives hope to the 100,000 other Americans who suffer from sickle cell. It also illuminates the enormous potential for the companies that are pioneering genetic medicine to cure diseases with a one-time treatment.

Sickle cell is among their first targets. The companies include the sponsors of Victoria Grays clinical trial Crispr Therapeutics (ticker: CRSP) and Vertex Pharmaceuticals (VRTX)as well as biotechs like bluebird bio (BLUE), whose gene therapy for sickle cell is further along in testing and could be introduced by 2022.

For these companies, genetic therapies for sickle cell could fetch annual revenue of several billion dollars apiece. A recent Bank of America Securities report predicts that new treatments for sickle cell will surpass $6 billion in sales by 2028. That is meaningful for a company of any size, but particularly so for these biotechs. Crispr doesnt yet have sales. Bluebirds revenue last year was $45 million, and Vertexs, $4 billion.

More important, the sickle cell therapies will demonstrate how such genetic technology could open the door to curing dozens of other diseases.

Investors seem persuaded. They have lifted Crispr stock threefold since March to a recent high of $97, which values the development-stage company above $6 billion. Hitting a record high of $306, Vertexs value has topped $75 billion, while bluebirdwhose investors have waited nearly a decade for their paydaytrades at a more modest market cap of $4.2 billion. Biotech valuations may be hard to rationalize these days, but that reflects the radical changes that new technologies are bringing to the health-care business. One need look only at this years fourfold rise of the messenger RNA vaccine leader Moderna (MRNA).

The focus on sickle cell is a turnaround for the pharmaceutical industry, which had long ignored the inherited disorder. Sickle cell mainly afflicts Black Americans and residents of poor African nations. It is the most commonly diagnosed genetic disorder among newborn Americans. Yet it has not had as much funding as some less-common inherited conditions. Cystic fibrosis, for example, affects one-third as many Americans, but researchers at Duke University have shown that it has historically received more than seven times the federal and foundation research funding per patient.

This year, two new sickle cell drugs came on the market. And sometime next year, bluebird will ask the U.S. Food and Drug Administration to approve its sickle cell gene therapy. Crispr and Vertex hope that they will not be not far behind.

The starting prices of the new sickle cell treatments are expected to range from $100,000 to over $1 million. It will be a challenge to make them accessible to the millions of people in poor countries who have sickle cell.

The disease is caused by a single variation in a gene for hemoglobin, the protein that carries oxygen in our red blood cells. The genetic trait is prevalent among those whose descent traces to sub-Saharan Africa, because a single copy of the sickle cell gene protects you from developing malaria. Inherit a copy from each parent, however, and you become one of 300,000 babies born in the world each year with sickle cell disease. It causes hemoglobin molecules to form long chains that warp red blood cells into sickle shapes that get stuck in blood vessels and block the flow to vital organs.

The result is terrible pain, organ damage, infections, andwhen left untreateddeath before age 5, on average. In the U.S., where the disease occurs in one of every 365 Black babies, available treatments still leave many with a life of pain, disability, and death before age 50.

The first sickle cell treatment approved by the U.S. Food and Drug Administration was hydroxyurea, in 1998. For the half of sickle cell patients with moderate disease, treatment with hydroxyurea, antibiotics, and transfusions can allow productive lives. Hydroxyurea is off-patent and costs less than a dollar a day. But even that price is beyond reach of those who live in resource-poor countries, says Russell Ware, a pediatric hematology professor at the University of Cincinnati College of Medicine. Ware is working with medical colleagues in Uganda to get more children there on hydroxyurea.

Data as of 7/22/20

Bloomberg; company filings

The beauty is that its off-patent, says Ware, but its also a curse, because no one can make money off it.

Novartis (NVS) is supporting hydroxyurea availability in collaboration with the government of Ghana. The Swiss drug giant is also planning clinical trials in Ghana and Kenya for Adakveo, a monoclonal antibody approved by the FDA last November as one of the first novel treatments in decades for sickle cell disease. Adakveo dampens the inflammatory process that makes sickle cells clog blood vessels in cases that send some 50,000 Americans to the emergency room every year.

The intravenous drugs initial sales in the years first half were $36 million, but analysts hope that by the middle of this decade, Adakveos annual sales could reach $1 billion to $2 billion in the U.S. and Europe.

Just days after approving the Novartis drug, the FDA approved another sickle cell drug called Oxbryta, from Global Blood Therapeutics (GBT). Oxbryta is a pill that prevents defective hemoglobin from forming chains within red blood cells. The product is GBTs first, and it produced $14 million in sales for the March quarter, with a loss of $73 million.

But analysts like Yatin Suneja of Guggenheim Securities say that Oxbryta can hit sales of $1.7 billion in a few years, yielding some $13 a share in earnings for GBT. That makes Suneja think that GBT stock can rise from its current level of $72 to $115.

Successful sickle cell treatments could lift a number of biotech companies.

GBT CEO Ted Love says that Oxbrytas benign safety profile gives the company confidence that it will win approval to market the product for children, and in higher doses for adults. If other sickle cell treatments in the companys pipeline pan out, he imagines that sickle cell might one day become as well managed a disease as HIV.

Love is aware of the potentially curative gene therapies being tested by others, but he thinks that patients with milder cases of sickle cell might say, Just give me a pill.

For several decades, it has been possible to cure sickle cell with a bone-marrow transplant from a related donor. But the scarcity of matched donors and the risk of serious immune reactions have limited the number of such procedures to about 1,000. Recent breakthroughs in genetic technology promise to overcome those limitations by extracting a patients own cells, manipulating the cells genetic code, and then replacing the patients marrow with the amended cells.

The Cambridge, Mass.based bluebird bio is already in Phase 3 clinical trials of its beti-cel gene therapy for another inherited disorder of red blood cells called beta-thalassemia. Less common than sickle cell, thalassemia leaves patients with so few red blood cells that they can need more than a dozen transfusions a year. At a recent online gathering of hematologists, bluebird said that 60 children and adults with thalassemia had gone through its beti-cel procedure. About 90% had gone a year without needing a single transfusion.

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With a similar treatment for sickle cell, which bluebird calls LentiGlobin, more than two dozen patients have been infused with their own modified cells. Among the 14 patients who were six months past their treatment, there has been a 99.5% decrease in the blood vessel jam-ups that the patients previously suffered.

That is fundamentally transformative, says bluebird CEO Nick Leschly, and far exceeds any and all expectations weve ever had, any of our investigators have ever had, or the patients that have been treated.

These potentially curative cell therapies are complex procedures that are expected to be priced at about $1 million a patient. The thalassemia treatment is already approved in Europe. After the patients in bluebirds U.S. trials for thalassemia and sickle cell have been followed up for 18 months, the company will seek FDA approvalhopefully next year.

RBC Capital Markets believes that the companys sickle cell treatment could reach sales of $2 billion a year and help lift bluebird stock from its recent price of $66 to $100.

It took bluebird a decade to get to this point, and its shares have sunk as low as $17 and soared as high as $236, as investors reacted to the companys dramatic successes against refractory cancers. With Buy recommendations all along Wall Street, bluebird will get the capital it needs to cross the finish line.

Hard on the heels of bluebird are companies that believe they have better genetic treatments. One of them is Crispr Therapeutics. The company takes its name from CRISPR, shorthand for a Nobel Prizewinning technology that homes in on a targeted stretch of DNA and snips the double-stranded molecular code with a kind of chemical scissors.

The way I describe it to my patients, says patient Grays doctor Haydar Frangoul, at the Sarah Cannon Research Institute in Nashville, is that you have a book with 500 pages of thousands of words, and we are finding one word and correcting it.

Crispr Therapeutics CEO Sam Kulkarni says that CRISPR technology should provide more durable and uniform results than earlier generation treatments like bluebirds. When Crispr reported Grays healthy progress last month, it said that a second patient with sickle cell has also been treated, as well as five patients with thalassemia. Kulkarni hopes to reach the market with his treatments not too far behind bluebird.

This years surge in Crispr Therapeutics stock allowed it to raise about $450 million in a June stock offering. Jefferies analyst Maury Raycroft has estimated that a successful sickle cell treatment could contribute a third of the $5 billion in annual revenue he projects for Crispr by 2030, with earnings above $30 a share. The stock has blasted through his last price target of $82.

Behind Crispr are still other gene-editing companies working on treatments for thalassemia and sickle cell, including Sangamo Therapeutics (SGMO), Editas Medicine (EDIT), and Intellia Therapeutics (NTLA).

One of this years most successful initial public offerings was the February debut of Beam Therapeutics (BEAM), which is in preclinical testing of sickle and thalassemia treatments that would use a next-generation editing technology that CEO John Evans believes will be even more effective than CRISPR.

If these other companies sickle cell treatments pan out, they may be scrapping for market share after bluebird and Crispr have established products. Still, as the pharmaceutical giants shop for gene-editing know-how, there may be buyouts.

Sickle cell has been a long-neglected illness, but many companies are now competing with treatments that each hopes will be best-in-class. This should be a dogfight, says bluebird CEO Leschly, because thats in the interest of patients.

Write to Bill Alpert at william.alpert@barrons.com

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These Companies Are Seeking a Cure for Sickle Cell. And Its Just the Beginning for Some Gene Therapy Stocks. - Barron's

CAMBRIDGE, Mass., July 29, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, will report second quarter 2020 financial results after the Nasdaq Global Market closes on Wednesday, August 5, 2020. Subsequently, at 4:30 p.m. E.T., the Company will host a conference call to discuss its second quarter 2020 financial results and to provide a corporate update.

The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 1585717. Please specify to the operator that you would like to join the "Sarepta Second Quarter 2020 Earnings Call." The conference call will be webcast live under the investor relations section of Sarepta's website at http://www.sarepta.com and will be archived there following the call for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors:Ian Estepan, 617-274-4052iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

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Sarepta Therapeutics to Announce Second Quarter 2020 Financial Results and Recent Corporate Developments on August 5, 2020 - Yahoo Finance

Compiled by Zakiyah Ebrahim | Health24

31 Jul 2020, 08:45

When two pairs of generally healthy young brothers with no immune-related disease required mechanical ventilation in the intensive care unit (ICU), doctors and researchers at Radboud University Medical Center in the Netherlands considered whether genetic factors may have played a role in compromising their immunity.

Although the new coronavirus, SARS-CoV-2, can affect people of all ages, studies have highlightedtwo groups of peoplethat are at a higher risk of getting severe Covid-19: older people, and those with underlying medical conditions.

In the case of the first pair of brothers, one of them died due to infection, while the other recovered.

Curiosity about patients' genes

This rare occurrence triggered the curiosity of a physician from the MUMC+ (Maastricht University Medical Centre+) department of clinical genetics. She alerted her colleagues in Nijmegen who then followed up with an investigation.

"In such a case, you immediately wonder whether genetic factors could play a role," said geneticist Alexander Hoischen.

"Getting sick from an infection is always an interplay between, in this case, the virus and the human immune system. It may be a mere coincidence that two brothers from the same family became so severely ill. But it is also possible that an inborn error of the immune system played an important role. We investigated this possibility, together with our multidisciplinary team at Radboudumc."

The team found that the gene TLR7 (toll-like receptor 7) played a key role in the brothers immune response to the virus a finding that potentially has huge consequences for understanding and treating Covid-19.

Their research paper is published in The Journal of the American Medical Association (JAMA).

Genes and the immune system

All genes (collectively known as the "exome") of both brothers were sequenced. The team then followed this with a search for a possible link between their genes and Covid-19.

"We mainly looked at genes that play a role in the immune system, said Cas van der Made, a PhD student and resident at the Department of Internal Medicine, adding:

We know that several of these genes are located on the X-chromosome, and with two brother pairs affected X-chromosomal genes were the most suspicious. Women carry two X-chromosomes, while men possess a Y-chromosome apart from the X. Therefore, men have only one copy of the X-chromosomal genes. In case men have a defect in such a gene, there is no second gene that can take over that role, as in women."

The role of TLR7

TLR7 is a protein of the immune system that is encoded by the TLR7 gene. There are multiple TLR-genes which belong to a family of receptors, and these play a significant role in the recognition of pathogens (such as bacteria and viruses) and the activation of the immune system.

In this case, the researchers found mutations in the gene encoding for TLR7. Hoischen explained: "A few letters were missing in the genetic code of the TLR7 gene. As a result, the code cannot be read properly and hardly any TLR7 protein is produced.

Hoischen also explained that TLR7 function has thus far never been associated with an inborn error of immunity, and that scientists now have an indication that TLR7 is actually essential for protection against the new coronavirus.

It seems that the virus can replicate undisturbed because the immune system does not get a message that the virus has invaded. Because TLR7, which must identify the intruder and subsequently activate the defence, is hardly present. That could be the reason for the severity of the disease in these brothers," said Hoischen.

Second pair of brothers infected

When the researchers came across another pair of brothers who suffered severe Covid-19 and were both put on mechanical ventilation in the ICU, the researchers wanted to dig deeper, so they proceeded to investigate the genetic code of these two brothers as well.

They found that these two men also do not make sufficient functional TLR7 protein. Suddenly we had four young people with a defect in the same gene, all of whom had fallen seriously ill from the SARS-CoV-2 virus," said Hoischen.

Van der Made explained that their results show that SARS-CoV-2 appears to have free rein in people who do not have properly functioning TLR7, because the virus is not recognised by their immune system.

Very specific abnormality

According to Frank van de Veerdonk, immunologist and infectologist, and co-author of the study, the condition seems to be a very specific abnormality, an immunodeficiency, which is mainly related to this coronavirus, and added that this is the first time scientists have been able to connect a clinical phenomenon so strongly with TLR7.

Apart from providing new insight into the intricacies behind the operation of the immune system, the teams findings may also have critical consequences for the treatment of patients with severe Covid-19. Van de Veerdonk said that the substance "interferon" is currently being investigated for treating patients with this condition.

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How genetic mutations in healthy young men made them susceptible to severe Covid-19 - Health24

Newswise A protein that is critical for retrovirus replication may select viral genetic material for packaging within the nuclei of host cells, rather than in the cytoplasm, as was previously believed. The research, led by a team at Penn State College of Medicine, could have implications for the development of therapeutics that target this protein.

Retroviruses are a type of virus that use cells asmachines to make more virus particles that are spread fromcell to cell. There are three major infectious human retroviruses, including human immunodeficiency virus-1 (HIV-1) the cause of acquired immunodeficiency syndrome (AIDS). The lab of Dr. Leslie Parent, vice dean for research and graduate studies and professor of medicine, studies the avian retrovirus Rous sarcoma virus, which replicates similarly to HIV and causes tumors in domestic fowl.

Their research focuses on the role of a special protein called Gag that acts as an escort for genetic material in viral replication. It forms a complex by binding to the viral ribonucleic acid (RNA) to package it into an infectious virus particle. According to Parent, a professor of medicine and microbiology and immunology, their latest discovery puts scientists one step closer to developing therapeutics that can stop this complex from forming.

Our primary goal has been to understand where the initial interaction between the Gag protein and viral RNA occurs, said Parent. Other drugs and approaches have targeted viral replication after these complexes form. Our hope is that if we can better understand this interaction, early intervention strategies could be developed.

For years, scientists who studied retroviruses believed that Gag protein and viral RNA interacted only in the cytoplasm of the cell. But prior work by the Parent lab revealed that Gag proteins entered the nucleus of the cell as well. Based on that finding, they hypothesized that Gag protein might select viral RNA for packaging in the nucleus, where the RNA is made.

With so much activity going on in a cell, Parent and her colleagues put fluorescent labels on the Gag protein and viral RNA so they could watch their interactions in live cells using confocal microscopy. The images and videos of this process were captured and published with their data in mBio, a journal of The American Society for Microbiology.

As they hypothesized, they observed that Gag does bind viral RNA in the nucleus, and the complex traffics out of the nucleus. They propose that the viral Gag-RNA complex ultimately travels to the outer membrane of the cell where the viral particle is released to infect new cells. According to Parent, advances in technology have made this finding possible.

Visualizing a live cell in real time allows you see the intricate dynamics of its functions, Parent said. She noted the College of Medicines core facilities, including leading-edge live-cell microscopy, were integral to carrying out this project that has been years in the making. When you observe a cell over time, you can see the start, end and speed of various processes. It allows you to witness how a live cell deals with a viral infection.

Rebecca Kaddis Maldonado and Breanna Rice, postdoctoral scholars at the College of Medicine and coauthors on the publication, said knowing that Gag protein selects viral RNA in the nucleus opens up more questions that will be explored in future studies. They want to understand more about the kinetics of the interaction between Gag protein and viral RNA in the nucleus, mechanisms for how the complex moves outside the nucleus, and what other elements of the host cell may play a role in the process.

This observation is just the first of a series of investigations we need to carry out in order to understand this interaction, Maldonado said. The more we know about the details of this process, the better suited well be to propose or develop therapeutic targets.

Coauthors include Eunice Chen, Kevin Tuffy and Estelle Chiari of Penn State College of Medicine and Kelly Fahrbach and Thomas Hope of Northwestern University. Eunice Chen is a student in the College of Medicines MD/PhD Medical Scientist Training Program.

This research was supported by grants from the Pennsylvania Department of Health using Tobacco Settlement CURE Funds and the National Institutes of Health (NIH). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH or the Pennsylvania Department of Health.

The authors declare no conflict of interest.

About Penn State College of Medicine Located on the campus of Penn State Health Milton S. Hershey Medical Center in Hershey, Pa., Penn State College of Medicine boasts a portfolio of nearly $100 million in funded research. Projects range from development of artificial organs and advanced diagnostics to groundbreaking cancer treatments and understanding the fundamental causes of disease. Enrolling its first students in 1967, the College of Medicine has more than 1,700 students and trainees in medicine, nursing, the health professions and biomedical research on its two campuses.

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Caught in the act microscopy reveals key detail in retrovirus replication - Newswise

A multi-omics, multi-algorithm approach will unleash a new wave of understanding around Alzheimers disease and diagnosis, that in time, will make precision diagnostics practical, speakers predicted at the Alzheimers Association International Conference 2020 virtual event, held July 27-31. At least a part of that understanding will be based on the biomarkers identified during this meeting.

For analytics, a multi-tool approach is moving the emphasis from determining which algorithm is better to how to put the tools together (to get the most accurate information possible), Christos Davatzilos, Ph.D., University of Pennsylvania School of Medicine, said during a live chat. That enables researchers to be less focused on the engineering aspects and thus to work as translational scientists as more is learned about the brain and neurological diseases.

There are different criteria for performance than for triaging individuals based on biomarkers, Duygu Tosun-Turgut, Ph.D., University of California San Francisco, said. We need to be very mindful of the algorithms and how they are meant to be used for clinical practice of translational trials.

Therefore, as Davatzilos said, Its difficult to say any one algorithm is the best, but you can say this is best under certain conditions or for certain problems. Ultimately, AI wont be very different from biostatistics now, in that there are many options and many criteria researchers need to consider when choosing their tools.

So far, vetting various algorithms and approaches has received a good deal of attention.

We need such a diversity of means of discovery. With a multi-omics approach, researchers have independent sources of validation they can use to verify (their results) using a separate approach, said Paul M. Thompson, Ph.D., University of Southern California.

Initially, Thompson recalled, We learned a lot from the psychiatric researchers. They advised against using physical self-maintenance (PSM) scores, as criteria during the first round of analysis because of the high percentage of false positives those scored could generate. Now that more computing power is available and machine learning can be applied to the research, that advice becomes less valid because researchers have the means of sorting through the data.

There will be a new wave of discovery when people accept machine learning, Dr. Thompson added.

Machine learning opens the door to increasingly predictive approaches. For example, Andrew Saykin, Psy.D., director of the Indiana Alzheimer Disease Center, pointed out, Were being so stringent that were filtering out things that may be important in our concern to eliminate noise.

As an example, Thompson mentioned an MRI study of 11,000 young to middle-aged people.

We didnt find apolipoprotein E (APOE), the strongest known genetic risk factor for developing Alzheimers disease. That study shows that subjects ages matter, because APOE becomes more prevalent in people after age 60. It also suggests that, as Thompson said, If you build in interactions or other conditions, such as druggable characteristics, there may be better filters than the statistical sledgehammer that is being used today.

One possibility is a better understanding of the effects of various risk factors on cognitive trajectories in early- and late-onset Alzheimers disease. A team from South Koreas Sungkyunkwan University, the Samsung Medical Center, Samsung Alzheimer Research Medical Center, and in the US, from Harvard Medical School and Indiana University found that conventional risk factors accelerated cognitive decline in late-onset Alzheimers but slowed the decline among early-onset patients.

In studying the effects of APOE4, they found that outcomes varied based upon whether the patients carried that protein. Specifically, early-onset patients who did not carry APEO4 had a more rapid cognitive decline, but not those with late-onset Alzheimers disease. Likewise, higher levels of education accelerated cognitive decline in both early- and late-onset patients, but the most pronounced effects were among those with early-onset Alzheimers disease.

This research team also found that hypertension and obesity slowed cognitive decline in early-onset Alzheimers patients, but not in late-onset patients. Not surprisingly, the team noted that additional research is needed to determine the genetic and environmental factors behind declines in early-onset patients who lack any known risk factors.

In other meeting highlights, a poster presented Tuesday by Xiaohui Yao, Ph.D., and Li Shen, PhD., both of the University of Pennsylvania, predicted tissue-specific gene targets for Alzheimers disease. The researchers combined genome-wide association studies and data from expression quantitative trait loci (eQTL) to identify several genes in various tissues that have multiple associations (pleiotrophy) between their expression levels and the diagnosis of Alzheimers disease.

Fourteen genes and 13 brain tissues showed 64 significant associations. The gene CTB-171A8.1 exhibited the highest level of associations, with log p values typically beyond 10m and, for specific tissues, often above 12.5. The highest levels were associated with the cortex, cerebellum, and caudate basal ganglia, although activity was exhibited in all 13 brain tissues. The next most active gene was CEACAM19, which was involved in 10 of the tissues. Yao and Shen plan to continue investigating these genes as targets for functional validation.

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AAIC 2020: Multi-omics and Biomarkers Emerge as Key Elements in the Future of Alzheimer's Research - BioSpace

WILMINGTON, Del.--(BUSINESS WIRE)-- AstraZenecas TAGRISSO (osimertinib) has been granted Breakthrough Therapy Designation (BTD) in the US for the adjuvant treatment of patients with early-stage (IB, II and IIIA) epidermal growth factor receptor-mutated (EGFRm) non-small cell lung cancer (NSCLC) after complete tumor resection with curative intent.

The Food and Drug Administrations (FDA) BTD is designed to accelerate the development and regulatory review of potential new medicines that are intended to treat a serious condition and address a significant unmet medical need. The new medicine needs to have shown encouraging early clinical results that demonstrate substantial improvement on a clinically significant endpoint over available medicines.

While up to 30% of patients with NSCLC may be diagnosed early enough to have potentially curative surgery, disease recurrence is common in early-stage disease and nearly half of patients diagnosed in Stage IB, and over three quarters of patients diagnosed in Stage IIIA, experience recurrence within five years.1-6

Jos Baselga, Executive Vice President, Oncology R&D said: Patients with early-stage EGFRm lung cancer often experience recurrence even after successful surgery and adjuvant chemotherapy, yet there are currently no approved targeted treatments to improve outcomes. The Phase III ADAURA trial with TAGRISSO demonstrated an unprecedented level of clinical benefit in these patients, and we are working closely with the FDA to deliver this potentially curative treatment to patients as quickly as possible.

The FDA granted the BTD based on data from the Phase III ADAURA trial, which were also recently presented during the plenary session of the American Society of Clinical Oncology ASCO20 Virtual Scientific Program.

In the trial, TAGRISSO demonstrated a statistically significant and clinically meaningful improvement in disease-free survival (DFS) in the adjuvant treatment of Stage IB-IIIA EGFRm NSCLC patients, reducing the risk of disease recurrence or death by 79% (HR 0.21; 95% CI 0.16-0.28; p<0.0001) in a key secondary endpoint. In April 2020, an Independent Data Monitoring Committee recommended the trial to be unblinded two years early based on its determination of overwhelming efficacy.

TAGRISSO is approved for the 1st-line treatment of patients with metastatic EGFRm NSCLC and for the treatment of metastatic EGFR T790M mutation-positive NSCLC in the US, Japan, China, the EU and many other countries around the world.

TAGRISSO IMPORTANT SAFETY INFORMATION

INDICATIONS

Please see complete Prescribing Information, including Patient Information.

NOTES TO EDITORS

About lung cancer

Lung cancer is the leading cause of cancer death among both men and women, accounting for about one-fifth of all cancer deaths.7 Lung cancer is broadly split into NSCLC and small cell lung cancer, with 80-85% classified as NSCLC.8 The majority of all NSCLC patients are diagnosed with advanced disease while approximately 25-30% present with resectable disease at diagnosis.1-3 A significant portion of patients with resectable NSCLC eventually develop recurrence despite complete tumor resection and adjuvant chemotherapy. Approximately 10-15% of NSCLC patients in the US and Europe, and 30-40% of patients in Asia have EGFRm NSCLC.9-11 These patients are particularly sensitive to treatment with EGFR-tyrosine kinase inhibitors (TKIs) which block the cell-signaling pathways that drive the growth of tumor cells.12

About ADAURA

ADAURA is a randomized, double-blinded, global, placebo-controlled Phase III trial in the adjuvant treatment of 682 patients with Stage IB, II, and IIIA EGFRm NSCLC with complete tumor resection and adjuvant chemotherapy as indicated. In the experimental arm, patients were treated with TAGRISSO 80 mg once-daily oral tablets for three years or until disease recurrence. The trial enrolled in more than 200 centers across more than 20 countries, including the US, in Europe, South America, Asia and the Middle East. The primary endpoint is DFS in Stage II and IIIA patients and a key secondary endpoint is DFS in Stage IB, II and IIIA patients. The data readout was originally anticipated in 2022. The trial will continue to assess OS.

About TAGRISSO

TAGRISSO (osimertinib) is a third-generation, irreversible EGFR-TKI with clinical activity against CNS metastases. TAGRISSO 40 mg and 80 mg once-daily oral tablets have received approval in the US, Japan, China, the EU and many countries around the world for 1st-line EGFRm advanced NSCLC. TAGRISSO is also being developed in the Stage III, unresectable setting (LAURA), in the neoadjuvant resectable setting (NeoADAURA), in combination with chemotherapy (FLAURA2) and in combination with potential new medicines to address resistance to EGFR-TKIs (SAVANNAH, ORCHARD).

AstraZeneca in lung cancer

AstraZeneca has a comprehensive portfolio of approved and potential new medicines in late-stage development for the treatment of different forms of lung cancer spanning different histologies, several stages of disease, lines of therapy and modes of action. AstraZeneca aims to address the unmet needs of patients with EGFRm tumors as a genetic driver of disease, which occur in 10-15% of NSCLC patients in the US and EU and 30-40% of NSCLC patients in Asia, with the approved medicines gefitinib and TAGRISSO, and its ongoing Phase III trials LAURA, NeoADAURA, and FLAURA2.9-11

AstraZeneca is committed to addressing tumor mechanisms of resistance through the ongoing Phase II trials SAVANNAH and ORCHARD, which test TAGRISSO in combination with savolitinib, a selective inhibitor of c-MET receptor tyrosine kinase, along with other potential new medicines. Trastuzumab deruxtecan, a HER2-directed antibody drug conjugate (ADC), is in development for metastatic non-squamous HER2-overexpressing or HER2-mutated NSCLC, including trials in combination with other anticancer treatments. In addition, DS-1062, a trophoblast cell-surface antigen 2 (TROP2)-directed ADC, is in early development for advanced NSCLC where TROP2 is overexpressed in the majority of patients.13

An extensive, late-stage, Immuno-Oncology program focuses on lung cancer patients without a targetable genetic mutation which represents up to three-quarters of all patients with lung cancer.14 Durvalumab, an anti-PDL1 antibody, is in development for patients with advanced disease (Phase III trials POSEIDON and PEARL) and for patients in earlier stages of disease including potentially curative settings (Phase III trials MERMAID-1, AEGEAN, ADJUVANT BR.31, PACIFIC-2, PACIFIC-4, PACIFIC-5, and ADRIATIC) both as monotherapy and in combination with tremelimumab and/or chemotherapy. Durvalumab is also in development in the Phase II trials NeoCOAST, COAST and HUDSON in combination with potential new medicines from the early-stage pipeline including trastuzumab deruxtecan.

AstraZeneca in Oncology

AstraZeneca has a deep-rooted heritage in oncology and offers a quickly growing portfolio of new medicines that has the potential to transform patients' lives and the Company's future. With seven new medicines launched between 2014 and 2020, and a broad pipeline of small molecules and biologics in development, the Company is committed to advance oncology as a key growth driver for AstraZeneca focusing on lung, ovarian, breast and blood cancers.

By harnessing the power of four scientific platforms - Immuno-Oncology, Tumor Drivers and Resistance, DNA Damage Response and Antibody Drug Conjugates - and by championing the development of personalized combinations, AstraZeneca has the vision to redefine cancer treatment and one day eliminate cancer as a cause of death.

About AstraZeneca

AstraZeneca is a global, science-led biopharmaceutical company that focuses on the discovery, development and commercialization of prescription medicines, primarily for the treatment of diseases in three therapy areas - Oncology, Cardiovascular, Renal & Metabolism, and Respiratory & Immunology. AstraZeneca operates in over 100 countries and its innovative medicines are used by millions of patients worldwide. Please visit http://www.astrazeneca-us.com and follow the Company on Twitter @AstraZenecaUS.

References 1. Cagle P, et al. Lung Cancer Biomarkers: Present Status and Future Developments. Arch Pathol Lab Med. 2013;137:11911198.2. Le Chevalier T. Adjuvant Chemotherapy for Resectable Non-Small-Cell Lung Cancer: Where is it Going? Ann Oncol. 2010;21:196198.3. Datta D, et al. Preoperative Evaluation of Patients Undergoing Lung Resection Surgery. Chest. 2003;123: 20962103.4. Sasaki H, et al. Prognosis of Recurrent NonSmall Cell Lung Cancer Following Complete Resection. Oncol Lett. 2014:7;1300-1304.5. Fink-Neuboeck N, et al. Hazards of Recurrence, Second Primary, or Other Tumor at Ten Years After Surgery for NonSmall-Cell Lung Cancer. Clinical Lung Cancer. Accessed February 25 2020. https://www.doi.org/10.1016/j.cllc.2020.02.011.6. Pignon JP, et al. Lung Adjuvant Cisplatin Evaluation: A Pooled Analysis by the LACE Collaborative Group. J Clin Oncol. 2008;26:35523559.7. World Health Organization. International Agency for Research on Cancer. Lung Fact Sheet. http://www.gco.iarc.fr/today/data/factsheets/cancers/15-Lung-fact-sheet.pdf. Accessed July 2020.8. LUNGevity Foundation. Types of Lung Cancer. https://www.lungevity.org/about-lung-cancer/lung-cancer-101/types-of-lung-cancer. Accessed July 2020.9. Szumera-Ciekiewicz A, et al. EGFR Mutation Testing on Cytological and Histological Samples in Non-Small Cell Lung Cancer: a Polish, Single Institution Study and Systematic Review of European Incidence. Int J Clin Exp Pathol. 2013:6;2800-12.10. Keedy VL, et al. American Society of Clinical Oncology Provisional Clinical Opinion: Epidermal Growth Factor Receptor (EGFR) Mutation Testing for Patients with Advanced Non-Small-Cell Lung Cancer Considering First-Line EGFR Tyrosine Kinase Inhibitor Therapy. J Clin Oncol. 2011:29;2121-2127.11. Ellison G, et al. EGFR Mutation Testing in Lung Cancer: a Review of Available Methods and Their Use for Analysis of Tumour Tissue and Cytology Samples. J Clin Pathol. 2013:66;79-89.12. Cross DA, et al. AZD9291, an Irreversible EGFR TKI, Overcomes T790M-Mediated Resistance to EGFR Inhibitors in Lung Cancer. Cancer Discov. 2014;4(9):1046-1061.13. Zaman S, et al. Targeting Trop-2 in solid tumors: future prospects. Onco Targets Ther. 2019; 12: 1781-1790.14. Pakkala S, et al. Personalized Therapy for Lung Cancer: Striking a Moving Target. JCI Insight. 2018;3(15):e120858.

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TAGRISSO Granted Breakthrough Therapy Designation in the US for the Adjuvant Treatment of Patients With Stage IB-IIIA EGFR-mutated Lung Cancer -...

BALA CYNWYD, Pa., July 28, 2020 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Nasdaq:LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases,today announced that the European Medicines Agency (EMA) Committee for Orphan Medicinal Products (COMP) issued a positive opinion on the companys application for orphan drug designation for CTI-1601, a potential treatment for Friedreichs ataxia (FA), a rare, progressive, multi-symptom genetic disease that affects the functioning of multiple organs and systems. CTI-1601 is a recombinant fusion protein intended to deliver human frataxin into the mitochondria of patients with FA who are unable to produce enough of this essential protein. The U.S. Food and Drug Administration (FDA) previously granted Orphan Drug, Fast Track and Rare Pediatric Disease designations to CTI-1601 for the treatment of FA. Larimar expects that the European Commission, based on this positive opinion of the COMP, will formally grant the orphan drug designation for the European Union (EU) this year.

The positive opinion for orphan drug designation from the EMA COMP is an important milestone to bring a much-needed potential therapy to patients with FA, a devastating disease that currently has no approved medical treatments, said Carole Ben-Maimon, MD, President and Chief Executive Officer of Larimar Therapeutics.We look forward to working closely with EMA and continuing our U.S. Phase 1 trial of CTI-1601, which has the potential to become the first frataxin replacement therapy for patients with FA. We remain on track to report topline data in the first half of 2021.

Orphan drug designation in the EU is granted by the European Commission based on a positive opinion issued by the EMA COMP. To qualify, an investigational medicine must be intended to treat a seriously debilitating or life-threatening condition that affects fewer than five in 10,000 people in the EU, and there must be sufficient non-clinical or clinical data to suggest the investigational medicine may produce clinically relevant outcomes. EMA orphan drug designation provides companies with certain benefits and incentives, including clinical protocol assistance, differentiated evaluation procedures for Health Technology Assessments in certain countries, access to a centralized marketing authorization procedure valid in all EU member states, reduced regulatory fees and 10 years of market exclusivity.

About CTI-1601 CTI-1601 is a recombinant fusion protein intended to deliver human frataxin into the mitochondria of patients with Friedreichs ataxia (FA) who are unable to produce enough of this essential protein. Currently in a Phase 1 clinical trial in the U.S., CTI-1601 has been granted Rare Pediatric Disease designation, Fast Track designation and Orphan Drug designation by the U.S. Food and Drug Administration (FDA). Topline results from the Phase 1 clinical program are planned for the first half of 2021.

About Friedreichs ataxiaFriedreichs ataxia (FA) is a rare, progressive, multi-symptom genetic disease that typically presents in mid-childhood and affects the functioning of multiple organs and systems. The most common inherited ataxia, FA is a debilitating neurodegenerative disease resulting in multiple symptoms including progressive neurologic and cardiac dysfunction poor coordination of legs and arms, progressive loss of the ability to walk, generalized weakness, loss of sensation, scoliosis, diabetes and cardiomyopathy as well as impaired vision, hearing and speech. FA affects an estimated 4,000-5,000 individuals living in the United States and approximately 25,000 in the European Economic Area and United Kingdom. FA results from a deficiency of the mitochondrial protein, frataxin (FXN), which is found in cells throughout the body. To date, there are no medical treatment options approved for patients with FA.

About Larimar TherapeuticsLarimar Therapeutics, Inc. (Nasdaq:LRMR), is a clinical-stage biotechnology company focused on developing treatments for complex rare diseases. The companys lead compound, CTI-1601, is currently being evaluated in a Phase 1 clinical program in the U.S. as a potential treatment for Friedreichs ataxia, a rare and progressive genetic disease. Larimar also plans to use its intracellular delivery platform to design other fusion proteins to target additional rare diseases characterized by deficiencies in intracellular bioactive compounds. For more information, please visit: https://larimartx.com.

Forward-Looking StatementsThis press release contains forward-looking statements that are based on Larimars managements beliefs and assumptions and on information currently available to management. All statements contained in this release other than statements of historical fact are forward-looking statements, including but not limited to statements regarding the receipt of Orphan Drug Designation for the EU for CTI-1601 in FA from the European Commission, the expected timing for receiving Orphan Drug Designation from the European Commission, the expected incentives associated with receiving Orphan Drug Designation for CTI-1601, Larimars ability to develop and commercialize CTI-1601 and other planned product candidates, Larimars planned research and development efforts, and other matters regarding Larimars business strategies, use of capital, results of operations and financial position, and plans and objectives for future operations.

In some cases, you can identify forward-looking statements by the words may, will, could, would, should, expect, intend, plan, anticipate, believe, estimate, predict, project, potential, continue, ongoing or the negative of these terms or other comparable terminology, although not all forward-looking statements contain these words. These statements involve risks, uncertainties and other factors that may cause actual results, performance or achievements to be materially different from the information expressed or implied by these forward-looking statements. These risks, uncertainties and other factors include, among others, the that European Commission may not grant Orphan Drug Designation for the EU for CTI-1601 in FA or may do so in a longer than anticipated timeframe, the success, cost and timing of Larimars product development activities, studies and clinical trials; the ongoing impact of the COVID-19 pandemic on Larimars clinical trial timelines, ability to raise additional capital and general economic conditions; Larimars ability to optimize and scale CTI-1601s manufacturing process; Larimars ability to obtain regulatory approval for CTI-1601 and future product candidates; Larimars ability to develop sales and marketing capabilities, whether alone or with potential future collaborators, and successfully commercialize any approved product candidates; Larimars ability to raise the necessary capital to conduct its product development activities; and other risks described in the filings made by the Company with the Securities and Exchange Commission (SEC), including but not limited to Larimars periodic reports, including the annual report on Form 10-K, quarterly reports on Form 10-Q and current reports on Form 8-K, filed with or furnished to the Securities and Exchange Commission and available atwww.sec.gov. These forward-looking statements are based on a combination of facts and factors currently known by Larimar and its projections of the future, about which it cannot be certain. As a result, the forward-looking statements may not prove to be accurate. The forward-looking statements in this press release represent views as of the date hereof. Larimar undertakes no obligation to update any forward-looking statements for any reason, except as required by law.

Investor Contact:John WoolfordWestwickejohn.woolford@westwicke.com443-213-0506

Media Contact:Gina Cestari6 Degrees(917) 797-7904gcestari@6degreespr.com

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Larimar Therapeutics Announces Positive Opinion on Orphan Drug Designation Received from the European Medicines Agency for CTI-1601 for the Treatment...