,

Press release from Pfizer about gene therapy

Pfizer’s new phase 1b results of gene therapy in ambulatory boys with Duchenne muscular dystrophy (DMD) support advancement into pivotal phase 3 study

Read the press release here.

Friday, May 15, 2020
Pfizer Inc. announced updated Phase 1b clinical data on PF-06939926, an investigational gene therapy being developed to treat Duchenne muscular dystrophy (DMD). The preliminary data from 9 ambulatory boys with DMD, aged 6 to 12 indicate that the intravenous administration of PF-06939926 was well-tolerated during the infusion period, with encouraging efficacy and manageable safety events, even when considering those adverse events that were more severe in nature. The treatment provided durable and statistically significant improvements across multiple efficacy-related endpoints measured at 12 months post-infusion, including sustained levels of mini-dystrophin expression and improvements on the North Star Ambulatory Assessment (NSAA) rating scale, which is a validated measure of muscle function. Three serious adverse events (SAEs) were recorded, two of which reflected likely complement activation. While these two SAEs were severe in nature, all three events fully resolved within 2 weeks, providing encouragement that close monitoring and early intervention can help mitigate the effects of complement activation. This new dataset, which includes updated 12-month results on safety, dystrophin expression, and exploratory functional endpoints for 3 additional boys, was presented for the first time during a virtual oral session at the American Society of Gene & Cell Therapy (ASGCT) Annual Meeting.

 

Seng Cheng, Ph.D., Chief Scientific Officer, Pfizer Rare Disease Research Unit – “Based on the encouraging preliminary efficacy data and manageable safety events from our Phase 1b study, we believe we may have a potential breakthrough therapy for boys with Duchenne muscular dystrophy, a devastating disease for which there remains a significant medical need. We are advancing our Phase 3 program as quickly as possible and plan to begin dosing patients in the second half of 2020 pending regulatory approval. Our program has the potential to be the first DMD gene therapy Phase 3 trial start using a commercial-scale manufacturing process. If the program is successful, this manufacturing capability is expected to help position us to deliver this medicine to patients quickly following regulatory approval.”

 

Preliminary Safety Results

The primary endpoint of the Phase 1b study is to assess the safety and tolerability of this investigational gene therapy in ambulatory boys with Duchenne muscular dystrophy through 12 months following treatment. Based on the data to date, the most common adverse events (AEs) suspected to be related to PF-06939926 (occurring in >40% of patients) were vomiting, nausea, decreased appetite, and pyrexia (fever). There was no evidence of clinically relevant anti-dystrophin responses or hepatic dysfunction with the protocol-defined daily glucocorticoid regimen. Continue reading here.

Results from Secondary and Exploratory Endpoints

Secondary endpoints of the clinical study included measurement of mini-dystrophin concentration by liquid chromatography-mass spectrometry (LCMS) and distribution within muscle fibers by immunofluorescence.

Read more about: dystrophin concentration, dystrophin distribution and the functional assessment here.

 

Seng Cheng, Ph.D., Chief Scientific Officer, Pfizer Rare Disease Research Unit – “Taken together, we believe these data support the view that administration of PF-06939926 at a dose of 3E14 VG/kg can lead to the expression of potentially therapeutic levels of mini-dystrophin that may translate to a measurable improvement in muscle function and health in DMD patients. We also want to give our heartfelt thanks to all the patients, their families, the researchers, investigators, other clinicians and advocacy organizations for their passion, expertise and engagement in helping to advance clinical research and care for the Duchenne muscular dystrophy community.”

 

About PF-06939926

PF-06939926 is an investigational, recombinant adeno-associated virus serotype 9 (AAV9) capsid carrying a shortened version of the human dystrophin gene (mini-dystrophin) under the control of a human muscle specific promotor. The AAV9 capsid was chosen as the delivery vector because of its potential to target muscle tissue. Pfizer initiated the Phase 1b multi-center, open-label, non-randomized, ascending dose study of a single intravenous infusion of PF-06939926 in 2018. The goal of the study is to assess the safety and tolerability of this investigational gene therapy. Other objectives of the clinical study include measurement of dystrophin expression and distribution, as well as assessments of muscle strength, quality and function.

 

About Pfizer

Pfizer’s innovative portfolio focuses on the discovery and development of new medicines and vaccines. By focusing on the best science and patient experience, Pfizer’s leadership and significant investments support faster delivery of breakthrough medicines that can fulfill unmet needs.

Interesting link

La Fondation La Force talks with Dr. Jeffrey Chamberlain, a geneticist at the University of Washington, Seattle, about adenovirus-associated (AAV) micro-dystrophin gene replacement therapy.

, ,

Latest edition of the Catabasis Connection newsletter

La Force is happy to share the latest edition of the Catabasis Connection newsletter with updates on edasalonexent and information that Catabasis shared at the MDA Virtual Poster Session.

Earlier this month, Catabasis shared data from three scientific posters during the Muscular Dystrophy Association (MDA) Virtual Poster Session. Learn more about edasalonexent and its potential to provide positive effects in Duchenne here.

In this newsletter you can read:

  • Boys with Duchenne demonstrate capsule swallowing abilities
  • Phase 3 PolarisDMD trial enrolled expected patient population
  • Age-normative growth and normal adrenal function observed with edasalonexent

About Edasalonexent (CAT-1004)

Edasalonexent (CAT-1004) is an investigational oral small molecule designed to inhibit NF-kB that is being developed as a potential foundational therapy for all patients affected by DMD, regardless of their underlying mutation. In DMD the loss of dystrophin leads to chronic activation of NF-kB, which is a key driver of skeletal and cardiac muscle disease progression. Our ongoing global Phase 3 PolarisDMD trial is evaluating the efficacy and safety of edasalonexent for registration purposes. Edasalonexent is also being dosed in the open-label extension trial GalaxyDMD. In our MoveDMD Phase 2 trial and open-label extension, we observed that edasalonexent preserved muscle function and substantially slowed disease progression compared to rates of change in a control period, and significantly improved biomarkers of muscle health and inflammation. The FDA has granted orphan drug, fast track, and rare pediatric disease designations and the European Commission has granted orphan medicinal product designation to edasalonexent for the treatment of DMD. For a summary of clinical results, please visit www.catabasis.com.

About Catabasis

The mission of Catabasis Pharmaceuticals is to bring hope and life-changing therapies to patients and their families. There lead program is edasalonexent, an NF-kB inhibitor in Phase 3 development for the treatment of Duchenne muscular dystrophy. For more information on edasalonexent and the Phase 3 trial, please visit www.catabasis.com.

About La Force DMD

The Force’s mission is to unite the DMD community to raise awareness around a common objective: that of providing access to new treatments as fast as possible and to participate in the funding of promising research projects. Where access to treatments for rare diseases is concerned, it is essential that our community be strong: each member must be an active spokesperson who helps raise awareness for DMD among the general public, as well as for the challenges associated with access to treatment.

 

Edasalonexent is an investigational drug that is not yet approved in any territory.

COVID-19 for people affected by Duchenne or Becker #3

What we know about COVID-19 part 3

What do we know about COVID-19 for people affected by Duchenne or Becker? Due to the increasing concerns regarding the COVID-19 virus for people with Duchenne and Becker muscular dystrophy, the World Duchenne Organization had hosted their third webinar last Saturday for its members.  Information is provided by World Duchenne Organization.

In the third WDO Webinar, Prof. Dr. Jan Verschuuren, head of the neurology department at the LUMC in the Netherlands, shares how they have prepared their hospital for potential DMD/BMD patients with COVID-19.

Preventive Measures

Since there is no vaccine against the virus or cure against the disease, and most medicines are used to model the course of the disease, prevention is really key. Luckily, people with Duchenne are very aware when it comes to infection during this time of the year. Most families are already isolating at home and make sure they have a small group of people around them. You cannot be isolated completely due to the care you need. However, these team members need to respect social distancing and hygiene rules strictly.

In case you need to go to the hospital, you need to make sure you have clear information with you about the diagnosis, the medication you are taking and your ventilatory devices. Bring your ventilatory devices with you. You need to have the names and contacts of doctors in the field of Duchenne because if you are admitted to the hospital you may be seen by another doctor and there will be a lot of stress.

Read more >

Create Awareness In Hospitals On Potential COVID-19 Duchenne Patients

World Duchenne Organization also wrote a letter to occupational physicians. They made the statement that if you’re working in healthcare and have a boy with Duchenne, you should be allowed to stay at home and care for the boy to minimize the risk of infecting your own child. This also applies to carers that do not work in a healthcare facility, although the chance of being infected is probably lower than for those that work in a hospital and come in direct contact with patients. [ Read more here. ]

To-Do’s

  • Maximize your efforts to try and prevent infection
  • Get your clinician’s information so you can contact them in case of an emergency
  • When admitted to the hospital, immediately state your diagnosis and that you need special attention
  • Make sure you have protective gear such as masks for your carers
  • Contact your hospital and ask if they are prepared for a possible COVID-19 DMD case

 

This is the report of one webinar from the webinar series the World Duchenne Organization is hosting regarding the current COVID-19 pandemic. Please consult your clinician if you have specific questions on the medicines regimen. This information meant as general recommendations and does not replace personal medical advice.

More links

All questions and answer here: www.worldduchenne.org

COVID-19 for people affected by Duchenne or Becker #2

What we know about COVID-19 part 2

What do we know about COVID-19 for people affected by Duchenne or Becker? Due to the increasing concerns regarding the COVID-19 virus for people with Duchenne and Becker muscular dystrophy, the World Duchenne Organization had hosted a second webinar last Saturday for its members.  Information is provided by World Duchenne Organization.

What is the effect of steroids on the immune system?

Dr. Jarod Wong, an endocrinologist at Glasgow University – “Steroids prescribed for DMD may have some impact on lowering the immune system. Hence, routine flu vaccination is recommended. People taking steroids have been identified as an at-risk group in the current climate by some governments. However, we do not commonly see severe, unusual and serious infections in people with DMD on steroids.”

What is the effect of steroids and COVID-19 infection in DMD?

Dr. Jarod Wong, an endocrinologist at Glasgow University – “At the moment, we are not aware of any cases of people with DMD and COVID19 infection. It is theoretically possible that if infected, the infection may be more severe. However, we simply do not know. In some countries, any person on long term steroids has been classified as at-risk and recommended to isolate for a longer period of time, for instance, 12 weeks.”

Should I stop steroids in this instance then?

Dr. Jarod Wong, an endocrinologist at Glasgow University – “No, this should not happen and is not possible. One issue with anyone taking steroids for a prolonged period i.e. longer than a few months is that the adrenal glands, which make steroids naturally, are suppressed (ADRENAL SUPPRESSION LEADING TO ADRENAL INSUFFICIENCY). Even if we do want to stop steroids, a slow plan of gradual reduction over several months is essential. To cope with severe infection, extra steroids are needed – stress dosing. Otherwise, the person could become very ill and be in an adrenal crisis. One possibility of more severe infection (of all kinds) in people with adrenal suppression from taking steroids may be that steroid management during the illness is not adequate.”

Is there anything extra you need to do if on steroids during (COVID) illness?

Dr. Jarod Wong, an endocrinologist at Glasgow University – “Regardless of the type of infection in a person with DMD taking steroids, if the person has vomiting and/or diarrhea, steroids should be given in another form. If there is access to steroids in the form of hydrocortisone injection at home, this needs to be given and then presented to the hospital. In some people with DMD on steroids (especially older boys or men on lower doses of steroids), there may be a need to increase the dose of oral steroids during mild to moderate illness, which includes fever. It would be worth checking with your neuromuscular team if this is needed. In the majority of cases, this may not be necessary. Some teams have been advising all their patients to do so to be on the safe side. Generally, this should be for a period of 48 hours but maybe longer if the person is sick. Currently, if the symptoms might be COVID related and do not resolve within 48 hours, generally the advice is to contact the relevant places for COVID advice, for instance, the national hotline. For those on intermittent steroids, a steroid plan should be in place with information on what to do if the person with DMD is unwell during the days off steroids.”

Is it true steroids might have a positive effect on COVID-19?

Prof Dr. Annamaria De Luca, pharmacologist in Italy – “It has been proposed that low dosage of steroids can be useful in a so-called cytokine storm. This is a severe phenomenon that might occur in COVID-19 patients in an advanced stage of pneumonia. Normally, our immune system can combat the infection, however, at a certain stage, there could be an excessive discharge of the virus from the infected cells, leading to massive production of cytokines. China proposed that low doses of glucocorticoids such as alpha methyl prednisolone can help reduce the storm without causing immunosuppression. There are clinical trials ongoing in COVID-19 patients, but there is some debate about the real usefulness of steroids in this condition, especially in patients already on steroids. With the information and data we have, it’s important not to stop steroids unless specifically indicated. This is also valid for other Standards of Care in patients, i.e. those receiving treatment with ACE inhibitors. It’s best to maintain drugs that are effective in controlling cardiovascular function, as evidence of the potential risk of ACE inhibitors are few and controversial.”

More links

All questions and answer here: www.worldduchenne.org

Webinar #1

Webinar #2

15 THINGS WE KNOW SO FAR

,

Edasalonexent and COVID-19

La Force is happy to share the latest edition of the Catabasis Connection newsletter. As we are all faced with an unimaginable situation, Catabasis wanted to reach out and share information in response to questions they have been receiving about edasalonexent and COVID-19.

Catabasis is monitoring the trial for the safety of participating boys. To date, they did not identify any safety concerns related to COVID-19. We encourage reviewing your local recommendations to reduce the risk for boys and their families, and please consult your physician regarding specific medical advice. > Catabasis Connection <

Does edasalonexent affect the immune system?

Long-term toxicology studies with edasalonexent using higher doses than those in their clinical trials have found no evidence for immunosuppression using standard clinical and anatomic physiology methods. In clinical studies, now with over 100 patient-years of exposure to edasalonexent, Catabasis has found no evidence of immunosuppression or increased infections. In the Phase 3 PolarisDMD trial of edasalonexent, as well as the GalaxyDMD open-label trial, boys are not on steroids.

Should trial participants still go to the hospital for their assessments?

They are fortunate that site visits are relatively infrequent during the Phase 3 PolarisDMD trial with assessments every 3 months. Currently, they are focused on ensuring that patients have uninterrupted drug supply as well as safety monitoring. Catabasis is working closely with its clinical trial sites with frequent communication.

Will the outcome of ongoing trials be endangered by not being able to carry them out as per protocol?

Catabasis is actively monitoring the situation and has plans in place to address potential disruptions. Fortunately, they designed their clinical trial so that visits are relatively infrequent. Catabasis is working with sites to support drug supply, as well as safety and efficacy assessments.

About Catabasis

The mission of Catabasis Pharmaceuticals is to bring hope and life-changing therapies to patients and their families. There lead program is edasalonexent, an NF-kB inhibitor in Phase 3 development for the treatment of Duchenne muscular dystrophy. For more information on edasalonexent and the Phase 3 trial, please visit www.catabasis.com.

About La Force DMD

The Force’s mission is to unite the DMD community to raise awareness around a common objective: that of providing access to new treatments as fast as possible and to participate in the funding of promising research projects. Where access to treatments for rare diseases is concerned, it is essential that our community be strong: each member must be an active spokesperson who helps raise awareness for DMD among the general public, as well as for the challenges associated with access to treatment.

 

Edasalonexent is an investigational drug that is not yet approved in any territory.

,

COVID-19 for people affected by Duchenne or Becker

WHAT WE KNOW ABOUT COVID-19

What do we know about COVID-19 for people affected by Duchenne or Becker? Due to the increasing concerns regarding the COVID-19 virus for people with Duchenne and Becker muscular dystrophy, the World Duchenne Organization had hosted a webinar last Saturday for its members.  All these information are provided by World Duchenne Organization

General information

  • It’s a respiratory virus that can be spread by aerosols: little droplets when you cough or sneeze.
  • Symptoms are coughing, having fever, shortness of breath and difficulty breathing.
  • The virus can survive for hours on hard surfaces, so you don’t have to see the person who is symptomatic and spreading.
  • The highest risks are the older population above 60 and vulnerable people.
  • This Wednesday, the WHO officially declared COVID-19 a pandemic.

Stanford University School of Medicine Webinar ‘Coronavirus for non-virologists

And DMD/BMD

  • There is no expertise about Duchenne / Becker muscular dystrophy and the coronavirus as we don’t know any DMD/BMD patient affected by it
  • We have asked DMD experts to give a reaction to the questions of our families
  • Situation and national rules will be different in all countries

 

How to follow instructions if resources are scarce?

Prof. Dr. Jonathan Finder –“The best way to protect your sons is the avoidance of crowds and careful handwashing with soap and water.”

Prof. Dr. Nathalie Goemans –“We cannot stress enough the rules of common sense and hygiene, applicable to the general population and even more important for the helpers and caregivers.”

Elizabeth Vroom –“Next to washing your hands often, it’s necessary to clean surfaces, door handles and touch screens regularly.”

 

What impacts do steroids have on the immune system?

Prof. Dr. Jonathan Finder –“Steroids are a mild immunosuppressant and reduce the activity of lymphocytes, and these are the cells that help fight off viruses.”

 

Do people DMD/BMD patients have a higher chance of catching the virus?

Prof. Dr. Jonathan Finder – “No, and possibly they have a lower risk given that they are less likely to be touching doorknobs and handles and shake hands and the like. Those in schools or just out and about have the same risk from respiratory droplets.”

Prof. Dr. Nathalie Goemans – “We cannot stress enough that containing this epidemic is everyone’s responsibility, we should all temporarily restrict our contacts and stay as much as possible at home, respecting strict measures of hygiene.”

 

When infected, will it take them longer to fight it off?

Prof. Dr. Jonathan Finder –“We have no information about this. Presuming that steroids are being used, it is likely that the illness will be a bit harder to fight since steroids are mildly immunosuppressant. This is NOT to say that one should stop steroids: DO NOT STOP STEROIDS, as this is dangerous and riskier than the possible risks of COVID-19.”

Prof. Dr. Nathalie Goemans –“Yes, it is known that a severe course of COVID-19 can cause permanent damage to the lungs. On a positive note: although steroids are known to reduce immunity, it might well be that steroids could have a protective role in the pathophysiology (cytokine-storm) of severe ARDS in COVID-19 but we don’t know yet.”

 

Are they at higher-risk or ‘vulnerable people’ most likely to die?

Prof. Dr. Jonathan Finder – “They are at higher risk to be sure as the illness is a viral pneumonia, and having pneumonia is a risk for respiratory failure in this population. But as for “more likely to die” I would say NO as these patients are younger and for the most part do not have underlying lung disease. Those with chronic lung disease are the highest risk group, along with the elderly.

On the other hand, cardiac disease is a risk factor, and there is a great deal of cardiac disease in the DMD population. Thus I do have concerns about the risk of COVID-19 infection for those patients with heart failure.”

 

More answer here < WDO Webinar: COVID 19 and Duchenne & Becker muscular dystrophy >

,

Viltolarsen under priority review by the FDA

The U.S. Food & Drug Administration (FDA) had accepted the filing of a New Drug Application (NDA) under the priority review for viltolarsen in patients with Duchenne Muscular Dystrophy (DMD) who are amenable to exon 53 skipping therapy.

Read the full News Release

KYOTO, Japan and PARAMUS, NJ: February 7, 2020 –

Nippon Shinyaku Co., Ltd. and NS Pharma, Inc. announced that the U.S. Food & Drug Administration (FDA) had accepted the filing of a New Drug Application (NDA) under the priority review for viltolarsen in patients with Duchenne Muscular Dystrophy (DMD) who are amenable to exon 53 skipping therapy. In addition to priority review, the FDA previously granted viltolarsen with Fast Track, Orphan Drug and Rare Disease designations. The viltolarsen NDA includes results from a Phase 2 study and its long-term extension study in North America — as well as a Phase 1 and a Phase 1/2 study in Japan. Both the Phase 1/2 and Phase 2 studies evaluated changes in dystrophin levels and motor function across two doses. The PDUFA (Prescription Drug User Fee Amendments) date for viltolarsen is within the 3 rd quarter (July-September) of 2020. The PDUFA date is the target date the FDA provides a decision on the approval of a new drug. Viltolarsen represents one of the most extensively studied antisense therapies in DMD. Viltolarsen, if approved by the FDA, would represent a new treatment option for DMD patients amenable to exon 53 skipping in the United States.

About Viltolarsen

Viltolarsen has been granted a Rare Pediatric Disease Designation, Orphan Drug Designation, and a Fast Track Designation in the U.S., and “SAKIGAKE designation,” “Orphan drug designation,” and designation of Conditional Early Approval System in Japan. Viltolarsen is not approved by any regulatory authority and its safety and effectiveness have not been established.

Mechanism of Action

Exon skipping is a potential therapy that is being developed for patients with DMD. Specialized molecules are created to skip over the non-working part of the dystrophin gene and allow pieces of the puzzle to attach. It creates a smaller puzzle, but a puzzle that may produce some of the protein that muscles need to work correctly. NS-065/NCNP-01-201 Phase II dose-finding study is evaluating the safety and dosing of an investigational medication called NS-065/NCNP-01 (Viltolarsen), in the treatment of boys with DMD who have specific changes in the dystrophin gene that may be helped with the skipping of exon 53.

More links

,

Translarna™ Preserves the ability to walk for longer in children with DMD

PTC Therapeutics Announces First Publication of Real-World Data Showing Translarna™ (ataluren) Significantly Preserves Ability to Walk for Longer in Children with Duchenne Muscular Dystrophy

 

  • STRIDE registry analysis shows Translarna preserved ambulation and physical function by years compared with those in CINRG Duchenne Natural History Study, with no new safety signals
  • The trend toward delayed worsening of pulmonary function compared with natural history study
  • Read the full press release here

 

PTC Therapeutics, Inc. announced real-world data showing that boys with nonsense mutation Duchenne muscular dystrophy treated with Translarna™ (ataluren) and standard of care (SoC), preserved the ability to walk for years longer than those on SoC alone. Pulmonary function was also preserved in those treated with Translarna. The analysis, presented in the publication of an interim analysis of preliminary real-world data, compared children treated with Translarna in a real-world setting from the STRIDE Registry with a matched cohort in a long-term natural history study, CINRG. In addition, no new safety signals were observed in the patients treated with Translarna, consistent with what has been shown in previous clinical trials. The interim data have been published in the Journal for Comparative Effectiveness Research. The final data from the STRIDE registry is expected in 2025.

 

Dr. Andrés Nascimento, Pediatric Neurology, Neuromuscular Diseases Unit, SJD Children’s Hospital, Barcelona, Spain – “Duchenne muscular dystrophy is a devastating disease that causes irreversible muscle wasting and progressively robs young people of their ability to walk, move, and breathe naturally without a ventilator, and it reduces their autonomy in daily life tasks. In a real-world setting, children and adolescents treated with Translarna experience a delay in the disease progression, are able to maintain more mobility and have a higher level of physical autonomy concerning the course of the natural history of the disease. This is not only clinically relevant but especially important for the quality of life of patients and their families.”

 

Children treated with Translarna in a real-world setting as part of the STRIDE registry were able to walk independently for an additional 3.5 years compared with a propensity-score matched cohort in the CINRG natural history study, with a median age at loss of ambulation of 14.5 years and 11 years.

Additional analyses from the registry demonstrated that Translarna sustained the ability of boys with Duchenne to complete everyday tasks by years compared with the natural history cohort.  In timed function tests, Translarna sustained their ability to stand up from lying down, in under 5 and 10 seconds, for three years longer than in boys treated with SoC alone. Boys treated with Translarna were also still able to climb four stairs in under 5 and 10 seconds for 1.5 and 3.6 years longer, respectively, than boys on SoC alone.

Also, the analysis showed a trend toward delayed worsening of pulmonary function in routine clinical practice for patients treated with Translarna, compared to the matched patients in CINRG.  After the loss of ambulation and loss of the use of the arms, the respiratory muscles of people with Duchenne start to progressively deteriorate, leading to the risk of life-threatening respiratory complications and the need for ventilation support. 

 

Dr. Claudio Santos, SVP, Global Medical Affairs, PTC Therapeutics – “The data from the STRIDE registry are consistently confirming the benefits seen in Translarna clinical trials and the difference it is making to patients and their families – more years of being independent and physically able without reliance on a wheelchair or ventilator.”

 

About Translarna (ataluren)

Translarna (ataluren), discovered and developed by PTC Therapeutics, Inc., is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in Duchenne muscular dystrophy. Translarna is licensed in the European Economic Area for the treatment of nonsense mutation Duchenne muscular dystrophy in ambulatory patients aged two years and older. Ataluren is an investigational new drug in the United States. In the video, Dr. Ellen Welch answers our questions about nonsense mutation and ataluren > Here

 

Ataluren in Canada

At this moment, PTC Therapeutics has not filed an application for marketing approval with Health Canada, but it has started a conversation with the legislator.

 

About the STRIDE Registry

The STRIDE (Strategic Targeting of Registries and International Database of Excellence) Registry is an ongoing, multicenter, observational study of the safety and effectiveness of Translarna in routine care.  It is the first patient data repository to provide real-world experience regarding the long-term use of Translarna in routine clinical practice.

Effectiveness information may include neuromuscular function measures, cardiac function, pulmonary function, and quality of life measures. Assessments of musculoskeletal health, rehabilitation, orthopedic and gastrointestinal management, as well as other measures of psychosocial management, will be collected to allow for comparison of patient health-management activities in routine clinical care to those of published treatment guidelines.

STRIDE is a collaborative partnership between TREAT-NMD and PTC Therapeutics, led by a Steering Committee comprised of leading experts in Duchenne, patient advocates from around the world and PTC representatives.

The Registry also fulfils a post-marketing commitment to the Pharmacovigilance Risk Assessment Committee of the European Medicines Agency.

 

About TREAT-NMD

TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch, in January 2007 the network’s focus has been on the development of tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide. The network has developed from its European roots to become a global organization that brings together leading specialists, patient groups and industry representatives to ensure preparedness for the trials and therapies of the future while promoting best practice today.

Further information about TREAT-NMD can be found here > TREAT-NMD

 

About CINRG

The Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study was a prospective, longitudinal study of more than 400 patients with Duchenne muscular dystrophy (DMD) who were followed up between 2006 and 2016 at 20 worldwide centers as part of the academic clinical trial network, CINRG.

 

More links

  • Read the full press release here
  • Pioneer in DMD Therapy here
  • Learn more about nonsense mutation here
  • Learn more about ataluren (Translarna™) at ptcbio.com

SOURCE PTC Therapeutics, Inc.

What’s next for edasalonexent in 2020?

La Force is happy to share the latest edition of the Catabasis Connection newsletter about the Phase 3 PolarisDMD trial enrolled in the expected patient population and their partnership with Duchenne UK to evaluate edasalonexent in non-ambulatory boys and men affected by Duchenne.

A new Phase 2 non-ambulatory clinical trial in partnership with Duchenne UK!

Catabasis and Duchenne UK are partnering to study edasalonexent in a Phase 2 non-ambulatory Duchenne muscular dystrophy trial. Duchenne UK has granted over $600,000 in funding to support patient and clinical trial site costs. The exploratory Phase 2 study is designed to be a 1-year, randomized, double-blind, placebo-controlled trial to assess safety, pharmacokinetics, and exploratory measures of function including cardiac, skeletal muscle, and pulmonary function in non-ambulatory DMD patients. > Read more here.

To learn more about Duchenne UK, please visit their website: https://www.duchenneuk.org/

Phase 3 PolarisDMD trial enrolled expected patient population

With the Phase 3 PolarisDMD trial fully enrolled, Catabasis is sharing measurements and information about the boys enrolled from the beginning of the trial. The analysis of baseline characteristics shows that patients enrolled in the Phase 3 trial have similar characteristics to the patients that enrolled in the previous Phase 2 MoveDMD trial. Both trials enrolled boys affected by Duchenne ages 4-7 (up to 8th birthday) with any mutation type who had not been on steroids for the past 6 months. Baseline age, North Star Ambulatory Assessment score, and timed function test values (time to stand, 4-stair climb, and 10-meter walk/run) were similar in both trials. There were no significant differences in these baseline characteristics between the two trials.

Top-line results from the Phase 3 PolarisDMD trial are expected in Q4 2020 and are anticipated to support an NDA filing in 2021.

About Catabasis

The mission of Catabasis Pharmaceuticals is to bring hope and life-changing therapies to patients and their families. There lead program is edasalonexent, an NF-kB inhibitor in Phase 3 development for the treatment of Duchenne muscular dystrophy. For more information on edasalonexent and the Phase 3 trial, please visit www.catabasis.com.

About La Force DMD

The Force’s mission is to unite the DMD community to raise awareness around a common objective: that of providing access to new treatments as fast as possible and to participate in the funding of promising research projects. Where access to treatments for rare diseases is concerned, it is essential that our community be strong: each member must be an active spokesperson who helps raise awareness for DMD among the general public, as well as for the challenges associated with access to treatment.

 

Edasalonexent is an investigational drug that is not yet approved in any territory.

Sarepta Therapeutics Announces Partnership with Roche

Sarepta Therapeutics Announces Partnership with Roche in Territories Outside the United States for its Investigational Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy, SRP-9001

Press release here

Quick view

  • Roche obtains the exclusive right to launch and commercialize SRP-9001 outside the United States 
  • At closing, Sarepta will receive an upfront payment of $1.15 billion, comprising $750 million in cash and $400 million in Sarepta stock, priced at $158.59 per share of common stock 
  • Additionally, Sarepta is eligible to receive up to $1.7 billion in regulatory and sales milestones, plus royalties on net sales 
  • Sarepta will continue to be responsible for clinical development and manufacturing of SRP-9001 with global clinical development costs shared equally with Roche 

Sarepta Therapeutics, Inc. announced that Sarepta and Roche have entered into a licensing agreement providing Roche exclusive commercial rights to SRP-9001 (AAVrh74.MHCK7.micro-dystrophin), Sarepta’s investigational gene therapy for Duchenne muscular dystrophy (DMD), outside the United States. Under the agreement, Sarepta will receive $1.15 billion in an upfront payment and an equity investment; up to $1.7 billion in regulatory and sales milestones; and royalties on net sales, anticipated to be in the mid-teens. In addition, Roche and Sarepta will equally share global development expenses. Sarepta retains all rights to SRP-9001 in the United States.

The collaboration combines Sarepta’s leading gene therapy candidate for DMD with Roche’s global reach, commercial presence and regulatory expertise to accelerate access to SRP-9001 for patients outside the United States. DMD is an X-linked rare degenerative neuromuscular disorder causing severe progressive muscle loss and premature death. SRP-9001, currently in clinical development for DMD, is designed to deliver the micro-dystrophin-encoding gene directly to the muscle tissue for the targeted production of the micro-dystrophin protein.ç

 

Doug Ingram, president and chief executive officer, Sarepta – “As a mission-driven organization, we are inspired to partner with Roche with the goal of bringing SRP-9001 to patients outside the United States. This collaboration will not only increase the speed with which SRP-9001 could benefit DMD patients outside the United States but will also greatly expand the scope of territories within which we could potentially launch SRP-9001 and improve and save lives. In addition to the validation that comes from joining forces with Roche, this licensing agreement – one of the most significant ex-U.S. licensing transactions in biopharma – will provide Sarepta with the resources and focus to accelerate our gene therapy engine and, if successful, bring SRP-9001 to patients as quickly as possible, potentially transforming the lives of countless DMD patients across the globe.”

 

James Sabry, Head of Roche Pharma Partnering –  “We are excited to enter this licensing agreement with Sarepta. By working together to provide SRP-9001 to patients, we hope to fundamentally transform the lives of patients and families living with this devastating disorder for which there are currently only limited treatment options.”

As part of the agreement, Sarepta will continue to be responsible for the global development plan and manufacturing build-out for SRP-9001. Through its leading hybrid manufacturing platform, Sarepta will remain responsible for manufacturing of clinical and commercial supplies. Sarepta has also granted Roche an option to acquire ex-U.S. rights to certain future DMD-specific programs, in exchange for separate milestone and royalty considerations, and cost-sharing.

About Sarepta

Sarepta Therapeutics, Inc., a biopharmaceutical company, is working to unlock the potential of RNA-based and gene therapy technologies for the treatment of serious and life-threatening diseases like Duchenne muscular dystrophy (DMD). Sarepta’s primary focus is to rapidly advance new treatments for DMD.

More interesting links

Source

Sarepta Therapeutics, Inc.