Biomarin Pharmaceutical, a California company that makes what could become the first gene therapy for hemophilia, says its drug's price tag might be $3 million per patient. Maciej Frolow/Getty Images hide caption

Biomarin Pharmaceutical, a California company that makes what could become the first gene therapy for hemophilia, says its drug's price tag might be $3 million per patient.

Jack Grehan, who was born with hemophilia, used to inject himself every couple of days with a protein he needs for his blood to clot. But not anymore.

"It's been absolutely brilliant and life-changing for me," says Grehan, 26, of Billinge in North West England. He received an experimental gene therapy in 2017 that, at least for now, has eliminated his need for regular injections. "I can just go about my day and not have to worry."

Based on experiences like Grehan's, the company that developed the therapy is seeking approval in Europe and the United States to start selling the first gene therapy for hemophilia. That's generating excitement among patients, patient advocates and doctors.

"Not to have to worry about hemophilia any longer I think it's essentially transformational for many patients," says Dr. John Pasi of the Royal London Hospital and the London School of Medicine and Dentistry. Pasi led the recently published study Grehan took part in.

Jack Grehan, of Billinge, U.K., in North West England, is one recipient of BioMarin's still experimental gene therapy to treat hemophilia. He says his quality of life has improved dramatically since getting an infusion of the drug three years ago. Jack Grehan hide caption

Others are more cautious.

"This is really exciting, but also raises a lot of questions," says Meg Bradbury, director of research at the Hemophilia Federation of America, a patient advocacy group.

One of the biggest questions is the possible cost. BioMarin Pharmaceutical Inc. of San Rafael, Calif., the company that developed the gene therapy, says the treatment could cost as much as $3 million per patient, which would make it the most expensive drug ever approved.

"It's just outrageous," says Peter Bach, who studies drug prices at Memorial Sloan Kettering Cancer Center in New York.

Company officials defend the possible price, however. It currently costs hundreds of thousands of dollars a year to treat each hemophilia patient. The gene therapy would, researchers hope, be a one-time treatment that lasts a lifetime.

"The context is this gigantically expensive disease to treat," says Jeff Ajer, BioMarin's executive vice president and chief commercial officer. "It's likely that our gene therapy would save a lot of money millions, perhaps many millions."

Hemophilia is a relatively rare condition. Hemophilia A, the most common form of the disease, occurs in 1 of about every 5,000 boys. (Though girls can be born with hemophilia, too, that's much rarer.) People born with the condition are missing a crucial protein that their blood needs to clot. So doing things as simple as walking can cause dangerous bleeding in their joints that eventually can be crippling.

"It was quite difficult, because I was always getting these bleeds in the ankles," Grehan says. "So walking around was becoming more and more troublesome."

Grehan has a severe form of hemophilia A, which causes a deficiency in a clotting protein called factor VIII.

"It's the microbleeds that just sort of wear your down not even physically but mentally," Grehan says.

And Grehan knew that propensity to bleed could cause even more serious, possibly fatal, complications if the hemorrhage every happened in his brain or other parts of his body.

"Internally, there could have been a lot worse situations," Grehan says. "I consider myself quite lucky in that respect."

Before anything like that happened to Grehan, he learned that doctors were testing the gene therapy.

"When I first heard about the trial I thought it was unbelievable that we were in this situation that this even existed," Grehan says.

So he volunteered three years ago to let doctors infuse trillions of neutralized viruses that had been genetically engineered to carry the healthy gene he needed into his liver.

Within a couple of weeks, Grehan could stop injecting himself with the clotting protein that he had previously needed.

In fact, the treatment dramatically cut bleeding in all 13 of the patients who got the effective dose of gene therapy determined by the study Grehan was in.

"I think it's amazing data actually," Pasi says. "It's been the Holy Grail for years to be able to treat hemophilia with a gene therapy treatment. And maybe we're beginning to see that that wasn't a pipe dream that this is a realistic option."

It's the latest promising development for gene therapy, which has finally started producing effective treatments for a variety of diseases after decades of setbacks.

Several other experimental forms of gene therapy are also showing promise for hemophilia, including another type of the condition, known as hemophilia B.

So far, nearly 150 patients have been treated with BioMarin's gene therapy as part of a larger study, and the results continue to be encouraging, according to the company. Some patients having been followed for as long as four years.

"For a good fraction of these people, they don't have to even think about having hemophilia anymore," says Henry Fuchs, president of research and development at BioMarin.

The Food and Drug Administration has designated the treatment a "breakthrough" therapy and accepted the company's application to give the gene therapy priority status for evaluation, representatives of BioMarin say. That makes it the first gene therapy for hemophilia the agency has agreed to consider.

According to the company, the FDA has signaled it will make its decision by Aug. 21 about whether to approve the treatment for sale.

Longer studies will be need to determine if the treatment is, in fact, a one-time, therapy for lifelong effect, experts say.

"It seems to be working very well, but we are only at three years," says Dr. W. Keith Hoots, director of the division of blood diseases and resources at the National Heart, Lung and Blood Institute. "We need to know for sure whether it will extend for their entire life. And only time will tell for that."

Nevertheless, Bach agrees the treatment appears very promising. Still, he questions the price tag, which would be just the latest in what appears to be an ongoing rise in the cost of the new wave of genetic therapies.

"The clinical breakthrough is prodigious. We should be thrilled by it," Bach says.

"But the greatest innovation by the pharmaceutical industry is not the biologic breakthroughs they're making," he says. "It's their ability to extract money from society that we could put into other things like better benefits in Medicare, lower out-of-pocket costs for poor people, dental coverage and things like that."

The prices of the drugs already used to treat hemophilia are inflated, Bach argues.

Bradbury, from the Hemophilia Federation of America, agrees cost is a concern.

"We need to make sure all those who are eligible would have access to it," Bradbury says.

Ajer says the company has already been negotiating with insurance companies and government programs to cover the costs.

"Our work is not done here, but my expectation is that most of the patients who need access to therapy would be able to get it, in not a terribly long time, through their insurance system," Ajer says.

As someone who has had to deal with hemophilia all his life, Grehan thinks the price is reasonable.

"I think $3 million for this is very cheap because it is life-changing," Grehan says. "And if you're going to spend hundreds of thousands of dollars a year over a lifetime, that seems worth it to me."

Continued here:

Gene Therapy Drug For Hemophilia May Be Priced As High As $3 Million Per Patient : Shots - Health News - NPR

Janssen has unveiled six-month data from an ongoing Phase I/II trial of its investigational gene therapy for the treatment of inherited retinal disease X-linked retinitis pigmentosa (XLRP).

The interim data show that low and intermediate doses of the investigational adeno-associated virus retinitis pigmentosa GTPase regulator (AAV-RPGR), jointly developed with MeiraGTx, were generally well-tolerated and indicated significant improvement in vision.

In patients with XLRP, the photoreceptors in the eye responsible for converting light into signals sent to the brain don't function as they should, leading to degeneration of the retina and legal blindness in adulthood.

The companies AAV-RPGR gene therapy is being investigated to treat the most common and severe forms of XLRP caused by mutations in the RPGR gene by preserving and improving vision and slowing retinal degeneration.

In the dose escalation phase of the trial, at six months, the low and intermediate dose cohorts demonstrated significant improvement from baseline in retinal sensitivity after treatment, evident when assessed with two perimetry approaches and three analysis metrics.

Currently, there are no approved treatments for this condition.

There is an urgent need to deliver a transformational therapy for people living with XLRP who experience progressive visual loss from childhood with eventual blindness in early adulthood, said Michel Michaelides, trial investigator, consultant ophthalmologist at Moorfields Eye Hospital and Professor of Ophthalmology at University College London.

We have learned valuable safety and efficacy information from this Phase I/II trial and look forward to applying those learnings in our next phase of study.

Continued here:

Janssen/MeiraGTx sight loss gene therapy hits targets - PharmaTimes

Based on FDA feedback, Applied Genetic Technologies (NASDAQ:AGTC) has revised the development plan for its gene therapy for X-linked retinitis pigmentosa, an inherited disorder affecting the retina that leads to vision loss.

Enrollment in the current 30-subject Phase 1/2 trial will be expanded. About 20 patients will be dosed, beginning in Q4, in two masked arms to collect additional functional data, including a mobility test added as a supplemental endpoint.

The agency indicated that a change in visual sensitivity of at least 7 decibels in at least 5 loci would be considered clinically meaningful. The company previously reported visual sensitivity as a mean over an entire treated area. Multiple participants in the Phase 1/2 study would meet the new criteria.

The planned Phase 2/3 trial will include two masked active arms in addition to a control arm. The primary endpoint will be visual sensitivity. Supplemental endpoints will include the mobility test. The study should launch in Q1 2021.

The company will provide additional information in its 10-K filing for fiscal 2020.

Shares up6%premarket on light volume.

See more here:

Applied Genetic Tech to expand study of gene therapy for vision loss disorder - Seeking Alpha

Robert Millman co-founded and led Semma Therapeutics as CEO while also a managing director of MPM Capital. By the time he left the stem cell therapy pioneer two years before it would be sold to Vertex he had left VC life behind.

Instead, he went around scouting new technologies, visiting with tech transfer offices and academics in the Boston/Cambridge area to find worthy ideas that could benefit from his IP expertise.

And he found quite a few.

One of them is Vesigen Therapeutics, which is launching with $28.5 million to turn a new class of extracellular vesicles into packaging and delivery tools for a variety of cargos mRNA, Cas9, base editors, PROTACs, you name it.

The barrier to being a drug company right now is not technology or targets, he told Endpoints News. Theres plenty of targets, theres plenty of technology, but theres no way of getting the two of those into a patient.

Vesigens platform stems from scientific co-founder and Harvard professor Quan Lus work on ARMMs, or arrestin domain-containing protein 1 [ARRDC1]-mediated microvesicles. As he wrote in Nature Communications in March 2018, ARMMs are distinct from exosomes, in that they lend themselves to more controlled production and cargos that can be recruited into the vesicle during the process of manufacturing rather than put together after the fact.

I dont understand really why a whole lot of venture firms didnt jump on it at the time, Millman said. I think its because most were focused on exosomes and just thought that this was another exosome company, and there was already Codiak and Evox.

But Lu showed in his paper delivery of function p53 protein to an p53 deficient animal and restoring p53 activity: To me it was revolutionary.

And compared to the current workhorses of genetic medicines such as viral vectors and lipid nanoparticles, ARMMs promise to package bigger and more varied payloads, get into more organs, and stay in circulation longer without triggering toxicity.

Faced with the Willy Wonka-like range of possibilities, Millman said the top order right now for his team of seven is to figure out a manufacturing setup that would load the cargos efficiently and be cleared by regulators.

In the three years that it will likely take to get to the cusp of the clinic, Vesigen is also collaborating with researchers to show how ARMMs can get into tissues that no one can go to with implications in ocular and neurological diseases as well as cancer.

The Series A, co-led by Leaps by Bayer and Morningside Ventures and joined by Linden Lake Ventures and Alexandria Venture Investments, should fund the company until 2025, when Millman expects to have built out the team to 30.

Its exactly the kind of projects that his group likes to invest in early, Leaps by Bayer head Jrgen Eckhardt said, especially as big believers in the cell and gene therapy space who see delivery as the missing link. For Vesigen, it also opens up opportunities to find partners within the pharma giants network down the road.

While Millman is keen not to lose focus, he also isnt hiding ambitions to make this the next big one.

I saw all of the problems Alnylam I was there for three years, we couldnt get delivery. I worked very early at Celera and established collaborations with Ionis and again delivery was limited. I was helping set up Verve Therapeutics and again delivery of Cas9 was a problem, he said. And here was an eloquent solution. I was just pleased to be at the right place at the right time.

See the article here:

'Missing link': Bayer, Morningside help catapult a new kind of delivery tech to cell and gene therapy - Endpoints News

With reliable and impactful research methodologies, PMR provides critical information pertaining to the growth of the global CNS Gene Therapy market. Our team of analysts monitor the ongoing developments within the CNS Gene Therapy space and provide an unbiased assessment of the global CNS Gene Therapy market. The data included in the report are procured from reliable and trustworthy primary and secondary sources.

According to the findings of the report, the value of the global CNS Gene Therapy market in 2018 was ~US$ XX (Mn/Bn) and expected to attain a value of ~US$ XX (Mn/Bn) by the end of 2029. In addition, the report reveals that the global CNS Gene Therapy market is likely to grow at a CAGR of XX% during the forecast period (2019-2029).

Request Sample Report @ https://www.persistencemarketresearch.co/samples/27514

Some of the leading companies profiled in the market study include:

The CNS Gene Therapy market report provides an extensive analysis of the different product types including:

The presented market study includes a brief introduction of the CNS Gene Therapy market to enhance the reading experience of our users. Further, a thorough quantitative and qualitative analysis of each of these segments is provided in the report along with graphs, tables, and figures to support the data.

key players and product offerings

Request Report Methodology @ https://www.persistencemarketresearch.co/methodology/27514

Key information drawn from the CNS Gene Therapy market study

The market report aims to address the following queries:

For any queries get in touch with Industry Expert @ https://www.persistencemarketresearch.co/ask-an-expert/27514

Read the original post:

CNS Gene Therapy Market Forecasted To Surpass The Value Of US$ XX Mn/Bn By 2018 2028 - Bulletin Line

Preclinical Data Demonstrate Potential of Prevails AAV Gene Therapy Approach to Slow or Halt Progression in Multiple Neurodegenerative Diseases

Company Provides Overview of Planned Phase 1/2 PR006 PROCLAIM Clinical Trial for FTD-GRN Patients

Company to Host a Panel Discussion and Q&A Session on FTD-GRNwith Jonathan Rohrer, Ph.D., MRCP, an Expert in Frontotemporal Dementia (FTD) and its Genetic Causes

NEW YORK, July 22, 2020 (GLOBE NEWSWIRE) -- Prevail Therapeutics Inc. (Nasdaq: PRVL), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, today announced three upcoming poster presentations at the Alzheimers Association International Conference (AAIC) 2020. These data underscore the robust preclinical evidence in support of Prevails AAV-based gene therapy approach, and highlight the Companys strategy to validate these data in the planned PROCLAIM clinical trial evaluating PR006 for the treatment of frontotemporal dementia patients with GRN mutations (FTD-GRN). The conference will be held virtually July 27-31, 2020.

Our novel gene therapy candidates have the potential to transform the treatment of patients with FTD-GRN and other devastating neurodegenerative diseases, said Asa Abeliovich, M.D., Ph.D., Founder and Chief Executive Officer of Prevail. An increased understanding of genetically defined forms of neurodegenerative diseases, including the role that GRN mutations can play in frontotemporal dementia, has opened exciting possibilities to stop or slow disease progression using a gene therapy approach.

PR001

Prevail will highlight preclinical data demonstrating the effect of PR001 treatment on key disease biomarkers and functional parameters. These data provide the basis for the Companys clinical trials for Type 2 neuronopathic Gaucher disease (nGD) patients and Parkinsons disease with GBA1 mutations (PD-GBA) patients.

Poster title: PR001 Gene Therapy Improved Phenotypes in Models of Parkinsons Disease with GBA1 MutationSession date and time: Monday, July 27, 12:00 a.m. - 11:59 p.m. CDT

PR006

Prevail will present the design of the PROCLAIM Phase 1/2 clinical trial for the treatment of FTD-GRN patients and preclinical data demonstrating the effect of PR006 treatment on progranulin expression, lysosomal dysfunction and inflammation in the CNS.

Poster title: Preclinical Development of PR006, a Gene Therapy for the Treatment of Frontotemporal Dementia with Progranulin Mutations Session date and time: Monday, July 27, 12:00 a.m. - 11:59 p.m. CDT

Poster title: Design of a Phase 1/2 Study of an AAV9-Based Gene Therapy for Fronto-Temporal Dementia Patients with Pathogenic GRN Mutations (PROCLAIM Trial)Session date and time: Wednesday, July 29, 12:00 a.m. - 11:59 p.m. CDT

FTD-GRN Panel Discussion and Q&A SessionIn addition to its presentations at AAIC, on Wednesday, July 29 at 2:30 p.m. EDT, management will be hosting a panel discussion and Q&A session on FTD-GRN by Jonathan Rohrer, Ph.D., MRCP, an expert in frontotemporal dementia (FTD) and its genetic causes. A live webcast of the event and replay following its conclusion will be available on the Events and Presentations section of the Company's website at https://ir.prevailtherapeutics.com/events.

About Prevail TherapeuticsPrevail is a gene therapy company leveraging breakthroughs in human genetics with the goal of developing and commercializing disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases. The Company is developing PR001 for patients with Parkinsons disease with GBA1 mutations (PD-GBA) and neuronopathic Gaucher disease; PR006 for patients with frontotemporal dementia with GRN mutations (FTD-GRN); and PR004 for patients with certain synucleinopathies.

Prevail was founded by Dr. Asa Abeliovich in 2017, through a collaborative effort with The Silverstein Foundation for Parkinsons with GBA and OrbiMed, and is headquartered in New York, NY.

Forward-Looking Statements Related to PrevailStatements contained in this press release regarding matters that are not historical facts are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended. Examples of these forward-looking statements include statements concerning the potential for Prevails gene therapy candidates to transform the treatment of patients with, and slow or halt the progression of, FTD-GRN and other neurodegenerative diseases. Because such statements are subject to risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements. These risks and uncertainties include, among others: Prevails novel approach to gene therapy makes it difficult to predict the time, cost and potential success of product candidate development or regulatory approval; Prevails gene therapy programs may not meet safety and efficacy levels needed to support ongoing clinical development or regulatory approval; the regulatory landscape for gene therapy is rigorous, complex, uncertain and subject to change; the fact that gene therapies are novel, complex and difficult to manufacture; and risks relating to the impact on our business of the COVID-19 pandemic or similar public health crises. These and other risks are described more fully in Prevails filings with the Securities and Exchange Commission (SEC), including the Risk Factors section of the Companys Quarterly Report on Form 10-Q for the period ended March 31, 2020, filed with the SEC on May 14, 2020, and its other documents subsequently filed with or furnished to the SEC. All forward-looking statements contained in this press release speak only as of the date on which they were made. Except to the extent required by law, Prevail undertakes no obligation to update such statements to reflect events that occur or circumstances that exist after the date on which they were made.

Media Contact:Mary CarmichaelTen Bridge Communications [emailprotected] 617-413-3543

Investor Contact:[emailprotected]

See the rest here:

Prevail Therapeutics to Highlight Multiple Gene Therapy Programs for Neurodegenerative Diseases at the Virtual 2020 Alzheimer's Association...