Category Archives: Cf

CHICAGO (Nov. 14, 2019) The Chicago Fire today announced that it has received $75,000 in 2020 General Allocation Money (GAM) from Inter Miami CF. In exchange, Chicago traded defender Grant Lillard to Inter Miami.

Going back to his days as an Academy player, Grant always represented the Club with pride, said Chicago Fire President and General Manager Nelson Rodrguez. We appreciate what he has given the Club and hope that this opportunity further advances his career.

Lillard, 23, was signed by the Fire on January 18, 2018. Over the last two seasons, the Hinsdale, Ill., native represented the Club on 14 occasions across all competitions, including MLS regular season matches and Lamar Hunt U.S. Open Cup contests.

In 2020, the Fire will return to Soldier Field for its 23rd MLS campaign. Fans can secure a seat for the Clubs 2020 MLS Home Opener on March 21 against Atlanta United FC, or any game of the regular season, with a refundable $20 ticket deposit. Season tickets for the 2020 season are also currently on sale, with packages starting at $25 per game. More information is available at http://www.chicago-fire.com/tickets.

Transaction: Chicago Fire Soccer Club acquires $75,000 in 2020 General Allocation Money from Inter Miami CFin exchange for defender Grant Lillard on Nov. 14, 2019.

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Chicago Fire Receives $75000 in General Allocation Money from Inter Miami CF - Chicago Fire

LONDON--(BUSINESS WIRE)--Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today confirms that the Regional Pharmaceutical Procurement Service in Northern Ireland has accepted an offer for access to all currently licensed Vertex cystic fibrosis (CF) medicines and any future indications of these medicines under the same terms as the recently announced agreement with NHS England.

This means that once the contract is finalized, patients with CF in Northern Ireland ages 2 years and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene will have access to ORKAMBI (lumacaftor/ivacaftor) and CF patients ages 12 years and older who either have two copies of the F508del mutation or one copy of the F508del mutation and a copy of one of the other 14 licensed mutations will have access to SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftor. We will support the arrangements being put in place to ensure clinicians will be able to prescribe to eligible patients within the next few weeks.

The agreement also offers expanded access to KALYDECO (ivacaftor) to include people ages 18 years and older who have the R117H mutation and those patients ages 12 months and older who have one of the nine licensed gating mutations.

We are pleased that the nearly 280 eligible cystic fibrosis patients in Northern Ireland will soon have access to CFTR modulators to treat the underlying cause of their disease and we thank the authorities in Northern Ireland for their collaboration and commitment in this agreement, said Ludovic Fenaux, Senior Vice President, Vertex International.

About CF in the UKOver 10,000 people in the UK have CF the second highest number in the world. Nearly 480 people in Northern Ireland have CF. CF is a debilitating, life-shortening inherited condition that causes progressive damage to organs across the body from birth. Currently, there is no cure for CF and half of people in the UK with CF die before they are 32. The daily impact of treatment is significant. It can take up to four or more hours, involving nebulizers, physiotherapy and up to 70 tablets a day. CF accounts for 9,500 hospital admissions and over 100,000 hospital bed days a year. A third of these are used by children under 15.

About ORKAMBI (lumacaftor/ivacaftor) and the F508del mutationIn people with two copies of the F508del mutation, the CFTR protein is not processed and trafficked normally within the cell, resulting in little-to-no CFTR protein at the cell surface. Patients with two copies of the F508del mutation are easily identified by a simple genetic test.

Lumacaftor/ivacaftor is a combination of lumacaftor, which is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del-CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it reaches the cell surface.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftorSome mutations result in CFTR protein that is not processed or folded normally within the cell, and that generally does not reach the cell surface. Tezacaftor is designed to address the trafficking and processing defect of the CFTR protein to enable it to reach the cell surface and ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface.

SYMKEVI is indicated for people with CF ages 12 and older who either have two copies of the F508del mutation or one copy of the F508del mutation and have one of the following 14 mutations in which the CFTR protein shows residual function: P67L, R117C, L206W, R352Q, A455E, D579G, 711+3AG, S945L, S977F, R1070W, D1152H, 2789+5GA, 3272-26AG, or 3849+10kbCT.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About KALYDECO (ivacaftor)KALYDECO (ivacaftor) is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

KALYDECO is indicated in people ages 12 months and older who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R. KALYDECO is also indicated for the treatment of patients with CF ages 18 years and older who have an R117H mutation in the CFTR gene.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has four approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational medicines in other serious diseases where it has deep insight into causal human biology, such as sickle cell disease, beta thalassemia, pain, alpha-1 antitrypsin deficiency, Duchenne muscular dystrophy and APOL1-mediated kidney diseases.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, the statements by Mr. Fenaux in the fourth paragraph of this press release and statements regarding our expectations for the patient populations that will be able to access Vertexs medicines and the timing of such access. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and subsequent quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

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Vertex Confirms Northern Ireland Offer Accepted for Cystic Fibrosis Medicines - Business Wire

Groundbreaking research has found that the majority of people with cystic fibrosis can be treated successfully.

Researchers at Queens University in Belfast and at the Cystic Fibrosis Unit at St Vincents Hospital Dublin, have identified how a combination of three drugs, known as triple therapy, can tackle the underlying cause of the incurable disease.

The drug, Trikaftatm, targets the root cause of cystic fibrosis (CF), a genetic condition that clogs up the lungs and digestive system, making breathing difficult and often resulting in an early death for those affected.

CF is an inherited chronic disease that primarily affects the lungs and digestive system of about 1,300 children and adults in Ireland and 70,000 worldwide.

That figure, according to Philip Watt of Cystic Fibrosis Ireland, is set to increase by 75% in adults and 25% in children in this country according to ongoing studies by 2025.

This new drug Trikaftatm will benefit 90% of sufferers worldwide, lung function is expected to increase dramatically and will result in a 60% decrease in hospitalisation. This is a hugely welcome advancement. Many of the trials by the Queens University researchers were carried out at several centres in Ireland including St Vincents Hospital Dublin.

Dr Francis Collins, an American researcher who discovered the CF gene in 1989 has already said this is the breakthrough in research he has been waiting for. Many of the trials prior to this did not achieve as much as this study has.

Dr Collins who is the director of the National Institutes of Health writing in The New England Journal of Medicine and the highly respected Lancet medical magazine over the weekend, said these findings indicate that it may soon be possible to offer safe and effective molecularly targeted therapies to 90% of persons with cystic fibrosis.

He said that this should be a cause for major celebration and the best day ever for all of us traveling down this long road together will be the day when the more than 70,000 persons with cystic fibrosis worldwide do not need to take drug therapy at all and there finally is a permanent cure for cystic fibrosis that works for everyone.

Mr Watt added: The Food and Drugs Administration in the US has approved this drug five months ahead of time and now the European Medicines Agency is reviewing it. As a result we would expect this drug to be on the market here by the Summer of next year to those over 12-years-of-age. We would be hopeful that will include children aged as young as two in the future.

The numbers of adults and children increasing in Western Europe is down to advancements in related drugs and quality of services.

Talks and negotiations with the Health Service Executive on this new announcement will, Im sure, commence as a pipeline deal on future drug advancements was agreed with them in 2017 when Orkambi was finally approved. So far we are not privy to the potential costs of this new drug.

However, it is estimated that the drug may cost around $311,000 or 279,000 annually by Vertex, a pharmaceutical company that produces other CF drugs.

Ireland has the highest incidence of CF in the world with one in 19 Irish people being said to carry one copy of the altered gene, with three times the rate of the United States and the rest of the EU.

The organisation has pointed out that it is important to have a network of centres of expertise in dealing with disease.

A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections; and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

Researchers believe it is possible to help control the symptoms and delay complications to make the condition easier to live with.

Dr Damian Downey, is a Clinical Senior Lecturer at the Wellcome-Wolfson Institute for Experimental Medicine, Queens University Belfast and co-author on the worldwide trial, set-up to assess the safety and efficacy of a new triple-drug combination called Trikaftatm in patients with CF aged 12 years and older.

The study involved a four-week, randomised, active-controlled trial in 107 patients who had two copies of the (F508del) most common gene mutation.

Dr Downey said: The trial was a success in demonstrating that this drug combination can potentially treat up to 90% of people with CF by addressing the underlying cause of their disease.

This new triple therapy has the potential to transform the lives of people with CF. It results in a significant improvement in lung function and quality of life and also reduces the frequency of chest infections. This treatment will likely alter the future of CF care.

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Research finds majority of people with cystic fibrosis can be treated successfully with three-drug combo - Irish Examiner

LONDON--(BUSINESS WIRE)--Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today confirms that NHS Wales has accepted an offer for all currently licensed Vertex cystic fibrosis (CF) medicines and any future indications of these medicines under the same terms as the recently announced agreement with NHS England.

This means that once the contract is finalized, patients with CF in Wales ages 2 years and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can access ORKAMBI (lumacaftor/ivacaftor) and CF patients ages 12 years and older who either have two copies of the F508del mutation or one copy of the F508del mutation and a copy of one of the other 14 licensed mutations can access SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftor in the coming weeks.

The agreement also offers expanded access to KALYDECO (ivacaftor) to include those patients ages 12 months and older who have one of the nine licensed gating mutations.

Todays announcement is good news for the approximately 270 eligible cystic fibrosis patients in Wales who will soon have access to CFTR modulators to treat the underlying cause of their disease, said Ludovic Fenaux, Senior Vice President, Vertex International. We thank the authorities in Wales for their collaboration in accepting this offer under the same terms as were recently announced in England.

About CF in the UKOver 10,000 people in the UK have CF the second highest number in the world. Over 430 people in Wales have CF. CF is a debilitating, life-shortening inherited condition that causes progressive damage to organs across the body from birth. Currently, there is no cure for CF and half of people in the UK with CF die before they are 32. The daily impact of treatment is significant. It can take up to four or more hours, involving nebulizers, physiotherapy and up to 70 tablets a day. CF accounts for 9,500 hospital admissions and over 100,000 hospital bed days a year. A third of these are used by children under 15.

About ORKAMBI (lumacaftor/ivacaftor) and the F508del mutationIn people with two copies of the F508del mutation, the CFTR protein is not processed and trafficked normally within the cell, resulting in little-to-no CFTR protein at the cell surface. Patients with two copies of the F508del mutation are easily identified by a simple genetic test.

Lumacaftor/ivacaftor is a combination of lumacaftor, which is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del-CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it reaches the cell surface.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftorSome mutations result in CFTR protein that is not processed or folded normally within the cell, and that generally does not reach the cell surface. Tezacaftor is designed to address the trafficking and processing defect of the CFTR protein to enable it to reach the cell surface and ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface.

SYMKEVI is indicated for people with CF ages 12 and older who either have two copies of the F508del mutation or one copy of the F508del mutation and have one of the following 14 mutations in which the CFTR protein shows residual function: P67L, R117C, L206W, R352Q, A455E, D579G, 711+3AG, S945L, S977F, R1070W, D1152H, 2789+5GA, 3272-26AG, or 3849+10kbCT.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About KALYDECO (ivacaftor)KALYDECO (ivacaftor) is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

KALYDECO is indicated in people ages 12 months and older who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R. KALYDECO is also indicated for the treatment of patients with CF ages 18 years and older who have an R117H mutation in the CFTR gene.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About VertexVertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has four approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational medicines in other serious diseases where it has deep insight into causal human biology, such as sickle cell disease, beta thalassemia, pain, alpha-1 antitrypsin deficiency, Duchenne muscular dystrophy and APOL1-mediated kidney diseases.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking StatementsThis press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, the statements by Mr. Fenaux in the fourth paragraph of this press release, statements regarding our expectations for the patient populations that will be able to access Vertexs medicines and the timing of such access, and statements about our expectations regarding a formal agreement in Northern Ireland. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and subsequent quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

Originally posted here:

Vertex Confirms Wales Offer Accepted for Access to All Licensed Cystic Fibrosis Medicines - Business Wire

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare diseases that have been discovered; on this weekend, nearly 60 were shown.

Threading the theme of rare disease, the films on offer traversed topics of treatment hopes and progress, isolation, mental health, and the need for boosted awareness. Films ran between a single minute and 85, some through independent creation and others by corporate or nonprofit sponsorship, by both amateur directors and award-winning documentarians. Genres included fantasy, documentary, animation, silent film, and foreign language.

The festival was co-created by Bo Bigelow, the father of a daughter with a USP7-related disease, and Daniel DeFabio, whose son has Menkes syndrome. It is the second event of its kind the first was held in Boston in October 2017.

This year, the films were hosted at the University of California, San Francisco (UCSF) Mission Bay Conference Center. Fittingly, UCSF directs the Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, one of the largest centers of its kind researching cures for diseases like those featured at the festival.

Many of the films celebrated the rare disease communitys progress from an age of searching for targets in disease origin, to a new age of nailing those discovered targets with innovative treatments. These films included not only the narratives of patients and their caregivers, but also their union with the researchers chasing diagnoses and cures.

The first film shown at the festival, director Andrew Pucios Counting Every Second, chronicles giant axonal neuropathy patient Hannah Samess journey. It follows her crying as she shares her dreams for a future, to receiving a life-altering gene therapy, to coming face-to-face with researchers to thank them for halting her disease.

The Race, a documentary by Dina Rudick, interwove the narratives of a woman named Jenne Coler-Dark with Huntingtons disease and scientist Logan Bishop-Currey, whos hunting a cure. In the film, she steps out of the lab to meet Jennes family.

Ive never met a person with Huntingtons. Ive never seen a face, she said before meeting them. When she did, though, it made her work personal. I now will see Jenne and her kids when I look at the data.

The film festival embodies this theme by aiming to put the often abstract and dire clinical information into the context of real people living their lives. By doing this, Bigelow and DeFabio hope to raise the stakes for researchers, and stick rare diseases at the forefront of the publics mind.

The films also provide a medium for depicting disease on the patients terms. Cystic fibrosis (CF) patient Amanda Korst, who was featured in fianc and director Joe Bergs A Day in My Life, spoke about finding balance in not revealing the most humiliating parts of her disease in the film while also depicting its reality.

You Google [CF] its not great stuff. Dont Google my disease. Its all just bad, bad, bad there. I want to show you my disease myself.

Between showings, filmmakers and people from the various disease communities shared the stage for open forums. In both their films and in the on-stage discussion, they emphasized the importance of realizing that, combined, the rare disease communities form a large family that is anything but disorderly.

When we join with other rare disease communities, we are huge and we have a voice, said Sharon King, the mother of Taylor King, who passed from Batten disease on Sept. 26, 2018.

Films showed the great strides by patients and their family members to raise funds and awareness through activities such as mountain climbing, the formation of nonprofits, and by becoming researchers.

Laura King Edwards, sister to Taylor and a Batten Disease News columnist, has been running half-marathons all across America while blindfolded to support Taylors Tale, a nonprofit that aims to conquer the fatal brain disease. Taylors Tale, which Edwards co-created, is now also dedicated to helping all other rare disease communities via public policy advocacy.

The only thing that will slow us down is if Battens disease is cured, Edwards said. Even then, the rare disease family is our family.

Bigelow and DeFabio plan to continue their rare disease community film rallies in future years. For more information, visit the Disorder: The Rare Disease Film Festival website.

Brad Dell is a deaf 26-year-old with cystic fibrosis. Originally from Hawaii, he received a double-lung transplant from University of California at San Francisco in January 2017. When not traveling, drinking coffee, or reading comics, hes working as the senior director of columns at BioNews Services. (OK, hes still drinking coffee while he works.)

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Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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Rare Disease Film Festival Highlights Patient and Researcher Unity in CF, Other Disorders - Cystic Fibrosis News Today

New Cystic Fibrosis Therapy Heralded As Groundbreaking But The High Cost Could Be A Prohibitive

A new treatment for cystic fibrosis, or CF, is being hailed as a groundbreaking therapy that can potentially extend the lives of people with the condition.

Nearly 400 people in Maine have the genetic disease that affects the lungs and other organs. And while many in the cystic fibrosis community are celebrating the news, there is concern about the medication's cost more than $300,000 per year.

One of the worst things about having cystic fibrosis, says 11-year old Adriana Pettengill of Belgrade, is that some of her peers treat her differently.

"Like, some people avoid me because they think I'm going to get them sick." Then, she says, there are the people who say they feel bad for her. "I'm like, 'I don't have a hard life.' I mean, I do have a disease, but there are people out there who have it way worse than me."

Adriana and her 13-year old brother Blake, who also has cystic fibrosis, do follow daily routines that are different from most kids. The disease causes mucus to build up in organs, mainly the pancreas and the lungs, which can interfere with nutrition and the ability to breathe. The mucus can also trap bacteria and cause infections. To get the excess mucus out of their lungs, Adriana and Blake need to slip on a special vest every morning and night.

Their dad Travis Pettengill helps Blake hookup tubes from his vest to a machine about the size of a computer printer. "So this machine is a compressor that inflates and it also pulsates, he says. So it inflates and gets very tight on their chest. And the pulse is what shakes them around to loosen the mucus," which they eventually cough out.

Blake and Adriana spend more than an hour a day wearing the vest. They also use nebulizers and take several medications. And now another treatment is going to be added to that routine. Last month, the FDA approved a new medicine called Trikafta. It's being described as the single greatest therapeutic advancement in cystic fibrosis.

"I never thought in my lifetime that this would happen," says Dr. Ana Cairns, who has been director of the cystic fibrosis center at Maine Medical Center for more than two decades.

Cairns says Trikafta is groundbreaking for a couple of reasons. First, it targets the underlying cause of cystic fibrosis at the cellular level. Second, Trikafta is expected to help about 90 percent of patients.

"It creates tremendous hope. I mean it creates hope that they can live a long life into midlife and beyond."

Cairns stresses that it is not a cure. But the new medicine will likely reduce the cycle of inflammation and infections that cause lungs to scar and deteriorate to the point that a lung transplant is the only option to prolong life. And some patients, she says, will see improved lung function.

Eighteen-year old Melayna Benner hopes that her lungs, which function at around 65 to 70 percent, will get a boost when she starts taking Trikafta.

"I just got approved the other day," she says.

Benner is studying to be a surgical tech at Southern Maine Community College. Even though cystic fibrosis is a progressive, terminal disease, she says she has always held out hope for a long life.

To me, it was always like, I'm going to live to 100. And now it's like, I'm really going to live to 100.

Back at the Pettengill's house in Belgrade, 13-Year old Blake will start taking the new medication right away. Trials for younger children are underway, but Adriana will be eligible in a year, when she turns 12.

"I'm just so excited for the day to come, because I think it's awesome that people are helping us out."

Blake and Adriana's parents say their kids will now have a shot at a longer, healthier life. But Travis says there is another aspect to his kids' future that he worries about.

"Right now, sometimes it's a struggle with paying for medication, Travis says. You know, when they get into adulthood, when they have to get a job and have to worry about insurance and have to worry about being able to afford to pay for their nebs (nebulizers) and their meds and medical equipment. That's more the things that I'm starting to think about now."

Trikafta comes at annual price tag of more than $300,000. A spokesperson for the company that manufactures it, Vertex, says in an email that their drugs have been broadly accepted by both public and private insurance, and the price of Trikafta reflects the efficacy of the medication and the company's investment in the development of new medicines.

But Dr. Ana Cairns says she is worried that the high cost of Trikafta could restrict access for those who are eligible for the drug. And for the 10 percent of CF patients who are not eligible because of their particular form of the disease, Cairns says the search for a cure must go on.

Originally posted 4:27 p.m. Nov. 13, 2019

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New Cystic Fibrosis Therapy Heralded As Groundbreaking But The High Cost Could Be Prohibitive - mainepublic.org

Cystic Fibrosis (CF) Warrior, Madi Vanstonewill be lobbying the government once again this month in hopes of getting more life-saving medications for CF patients approved in Canada.

Six years ago, she made headlines when she convinced then-premier Kathleen Wynne and the Ontario government to approve coverage for her life-saving drug, Kalydeco.

Without the coverage by OHIP, her family would have beenlooking at spending almost $350,000 a year for the drug, although insurance and the fact that she was part of a study reduced the cost to the Vanstones to about $60,000 per year.

Since being on the drug, Madi has been able to live a relatively normal life.

She tests negative for CF right now as long as she remains on the drug. Its incredible. Its not a cure because she has to continue on it, however as long as shes taking this drug the disease is kind of halted, explained her mother, Beth Vanstone.

The drugKalydecowas designed to help approximately three to four percent of CF patients,with a specific gene mutation. There are two more CF drugs, Orkambi and Symdeko frompharmaceutical company Vertex, that are currently approved by Health Canada, but not readily available in Ontariodue to high prescription criteria and lack of insurance coverageby OHIP.

Both the Orkambi and Symdeko drugs have been approved for market authorization by Health Canada and eligible patients can access them through private insurance.

However, if you rely on public access and do not have private insurance, there is only limited access, via strict criteria, in Ontario, Saskatchewan, and Alberta, explained Beth.

Madi is hoping to win over the provincial government once more, urging Ontario to lowerthe prescription criteria, and increase government coverage.

Bethrecently sent a letter of hope and proof to the Ontario Minister of Health, Christine Elliott, in hopes that history will repeat itself, and the Ontario government will provideaccess to the two drugs to more CF patients.

Elliott replied to the letter immediatelyto set up a meeting.Madi and mom Beth will be visiting with the Minister in Toronto on Nov. 27.

The Vanstones have also enlisted the help ofMPP Jim Wilson, whohelped Madi lobby the government in her fight for Kalydeco coverage.He and the Vanstones will head to Queens Park on Nov. 21 to discuss the matter withelectedofficials.

I am not asking the government to do anything out of the ordinary. I am simply asking that they be compassionate and do the right thing, said Wilson.

Canada is lagging behind and we cant let that happen. I believe the government is trying to do the right thing, but we need to keep the issue at the top of mind. The government needs to develop a 'rare drug' strategy to fix the problem, but in the meantime there needs to be a solution for those suffering now, Wilson said.

There is another CF drug that was recently approved by 18 other countries, including the U.S. and Germany. Trikafta, also manufactured by Vertex, could potentially help the majority of CF patients - but the manufacturer has not yet sent a submission for marketing in Canada.

At this time, Health Canada has not received a submission for the product Trikafta, which is a combination of Elexacaftor, Tezacaftor and Ivacaftor. However, Health Canada and Vertex Pharma, the manufacturer of Trifakta, have been in contact in regards to this product, confirmedSenior Media Relations Advisor, Maryse Durette.

Currently there are about 4,200 patients battling CF in Canada. Every case of CF is different. There isnt a one size fits all answer to treatments and medications, which is why the Vanstones believe it is important for the government to work out a portfolio deal, giving CF patients access to as many medications as possible.

"The new drug is what everyone is excited about. That's why the portfolio deal is important, so they can get them done all together," said Beth. Canada should not have people dying of disease because they are not willing to sit down and negotiate.

These are preventative life-saving medications. Its the governments responsibility to negotiate with the drug manufacturer to make these drugs more affordable, similar to what 18 other countries have already done, added Wilson.

A spokesperson for Vertex Pharmaceuticals said they were unable to comment about the future products that have not received market authorization in Canada.

However, it is important to note that Vertex has concerns that new Canadian medicine pricing rules, as they are currently written, has the potential to limit access to treatments for Canadians living with a rare disease," said the spokesperson. "We are working closely with relevant stakeholders to re-envision an environment where access to rare disease medicines for all eligible patients is achievable.

Every year, Madi and Beth work in support of CF Canada, holding fundraisers and travelling across Ontario to raise awareness of the disease and the drugs available.

There is a current hashtag trending amongthe CF patient community:#cfcantwait and #100days.

(it's) because our expectation is that a deal will be negotiated in 100 days, said Beth of the two medications waiting for coverage.Our goal is to have a portfolio deal with Vertex negotiated within 100 days, and to take the prescribing material out of the hands of bureaucrats.

She added that CF patients have been waiting long enough, andwont stop fighting until they get answers.

Madi saidshe is looking forward to going back to Queen's Park, and fighting for a cause she believes in. I am excited to get back. It will be fun, I enjoy it, hopefully we can get it done, she said.

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Local teen returning to Queen's Park to fight for life-saving medications - CollingwoodToday

Researchers in Canada have developed a novel clinical tool that uses patients overall health status and the risk for intermittent shock events to predict 1- and 2-year mortality in cystic fibrosis (CF), according study results published in European Respiratory Journal.1

Although survival in patients with CF has improved steadily during the past 3 decades, CF remains a life-shortening illness with half of all deaths occurring before the age of 35 years.2 Thus, there is a great need for developing an accurate prediction model for mortality to identify patients who would benefit from expedited referral to a lung transplant program. The researchers sought to develop a clinical tool for predicting 1- and 2-year risk for death using Canadian CF Registry data from 1982 to 2015 and validating it using United Kingdom CF Registry data from 2007 to 2013.1

They found that the combined effect of CF chronic health status and CF intermittent shock risk provided a simple clinical scoring tool for assessing 1-year and 2-year risk for death in an individual person with CF. The Canadian-derived model validated well with the UK data and correctly identified 79% of deaths and 95% of survivors in a single year in the United Kingdom.

In addition, the receiver under the operating curve of the 2-year mortality model was significantly greater than the model that predicted survival based on forced expiratory volume in 1 second <30% predicted (0.95 vs 0.68, respectively; P <.001).

The prediction model has some limitations. For one, although the majority of the predictor variables were obtained in the previous 12 months for the 1-year model or in the 12-month interval 1 year before for the 2-year model, the annual measurements in the Canadian registry do not reflect acute deterioration in health status. The researchers noted that it would be helpful to use encounter-based records in the future. In addition, the study population includes observations over the course of 30 years, during which CF prognosis and treatment have changed considerably.

In conclusion, the mortality prediction models provide accurate risks of death over 1-and 2-year time horizons, the researchers stated.1 The calculated probability of death may provide physicians and patients with important information with which to access key clinical decisions, such as transplant discussion and referral when the risk of death in the next 2 years is considered high.

References

1. Stanojevic S, Sykes J, Stephenson AL, Aaron SD, Whitmore GA. Development and external validation of 1- and 2-year mortality prediction models in cystic fibrosis. Eur Respir J. 2019;54(3).

2. Cystic Fibrosis Canada. 2012 Annual Report: The Canadian Cystic Fibrosis Registry. Toronto, Cystic Fibrosis Canada. Available at http://www.cysticfibrosis.ca/de/action/download?downloads=16&file=dl_Registry+2012 +-+English+FINAL+FOR+WEB.pdf. Published February 2014.

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New Clinical Tool Predicts 1- and 2-Year Mortality in Cystic Fibrosis - Pulmonology Advisor

The Cystic Fibrosis Foundation(CFF) is giving Eloxx Pharmaceuticals up to $1.61 million to support its planned Phase 2 clinical trial program assessing the safety, tolerability, and chemical properties of ELX-02, Eloxxs lead investigational compound to treatcystic fibrosis (CF) caused by nonsense, or stop, mutations.

The program is set to include two open-label, dose escalation, Phase 2 trials. One, called EL-012, will enroll up to eight patients in the U.S.; the other, EL-004, will enroll up to 16 patients in Europe.

Both studies will focus on the effects of multiple doses of ELX-02 in patients with at least one G542X allele.

The G542X allele is an abnormal variant of the CFTR gene (the gene defective in CF patients) that is included in Class I, which comprises a group of nonsense mutations that insert a stop signal in the coding sequence of CFTR. Because of this premature stop signal, the production of the CFTR protein halts, leading to the production of a shorter, non-functional protein.

ELX-012 is an experimental treatment that targets ribosomes the small structures that are responsible for the production of proteins in cells to tell them to bypass the stop signal in the mutatedCFTR coding sequence. In this way, ELX-012 increases the amount of full-length CFTR protein that is being produced, potentially minimizing the effects of CF.

The financial support provided by the CFF will help to bring EL-012 in testing in patients. The U.S. study will take place at clinical sites that are part of CFFs Therapeutics Development Network, the largest global network of CF clinical trials.

The company anticipates that early trial data will be available before the end of the year.

We are very gratified by the CF Foundations support as we advance our development program for ELX-02 in cystic fibrosis. The CF Foundations funding will accelerate the program in the U.S., Robert E. Ward, chairman and chief executive officer of Eloxx Pharmaceuticals, said in a press release.

We are also pleased that Dr. Ahmet Uluer, director of the Adult Cystic Fibrosis Program at the Boston Childrens Hospital has agreed to be the lead investigator in the U.S., and we look forward to reporting top line data from this trial later this year, Ward added.

If Eloxxs clinical trial program succeeds, ELX-02 may become the first treatment option for CF patients carrying at least one nonsense mutation. This would fulfill one of the top priorities of CFF: identifying and implementing therapies that tackle the root cause of CF.

Despite extraordinary progress in helping people with CF live longer and healthier lives, there is still critical work to be done to help all people living with this disease, the CFF stated in a news release.

Joana holds a MSc in Biology and a MSc in Evolutionary and Developmental Biology from Universidade de Lisboa. She is currently finishing her PhD in Biomedicine and Clinical Research at Universidade de Lisboa. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells cells that made up the lining of blood vessels found in the umbilical cord of newborns.

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Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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CF Foundation Awards Eloxx $1.61M to Support Trial in People with Nonsense Mutations - Cystic Fibrosis News Today

Adults with cystic fibrosis (CF) are less active than they should be, although they have comparable activity levels to people without the genetic disorder, according to a recent review.

The review also showed that there are not enough studies that objectively assess physical activity levels in CF. Therefore, more research in this area is warranted, the investigators said.

The study, Physical activity and associations with clinical outcome measures in adults with cystic fibrosis; a systematic review was published in the Journal of Cystic Fibrosis.

Physical activity is known to benefit all people, but CF patients gain even more from being physically active because exercise can slow down the decline in lung function. It also can help clear mucus from the lungs, among other benefits.

Experts recommend at least 150 minutes of moderate-to-vigorous physical activity each week, and walking a minimum of 10,000 steps per day for all individuals. In CF patients, doctors dont often assess their physical activity in a consistent way. Given that, very little is known about patients exercise habits.

Now, researchers atLiverpool John Moores University, in the U.K., sought to evaluate physical activity levels in CF adults. The goal was to compare their exercise habits with expert recommendations, and to those of people without the genetic disorder.

To do so, the investigators reviewed 18 studies. Scientific articles had to include measurement of physical activity and/or sedentary behavior using a tool validated for use in the general adult population and/or adults with CF, as well as quantification of baseline physical activity and/or sedentary behavior prior to any interventions.

In five out of eight studies in which such assessment was possible, adults with CF were found to not practice 150 minutes of moderate-to-vigorous physical activity each week, or walk 10,000 steps per day. Importantly, those without the disease also failed to meet expert recommendations, and did so approximately in the same proportion as CF patients.

In addition, scientists observed no differences between CF and healthy subjects physical activity levels in three out of five studies.

A total of 13 studies investigated the association between physical activity and other clinical outcome measures, including lung function, body mass index, exercise capacity, and exacerbation frequency. However, there was not enough evidence to backup a relationship between lung function, exercise capacity, and physical activity.

Only three studies used objective physical activity assessments, meaning participants used accelerometer-based systems to quantify their movement. In these studies, associations between physical activity and clinical variables were more evident, in comparison with studies that used self-reported physical activity.

Notably, the researchers said all of the studies analyzed were of low quality.

There is a requirement for high quality studies designed specifically to explore PA [physical activity] in adults with CF, ideally employing standardised PA [physical activity] assessment methods, the researchers said.

Overall, based on the results, the team concluded that physical activity in adults with CF is largely comparable to their non-CF peers, despite being insufficiently active to achieve PA recommendations.

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Physical Activity Levels in CF Should Be Objectively Researched, Review Says - Cystic Fibrosis News Today