Defeat Duchenne Family Forum with Jacques P. Tremblay

Key Note Speaker: Dr. Jacques P. Tremblay

Presented by PTC Therapeutics and in partnership with Jesse’s Journey and La Force DMD, this unique educational event provides the opportunity for families and caregivers navigating the Duchenne journey, to come together with researchers, like Jacques P. Tremblay, clinicians, and industry professionals for a day of education and inspiration.

Our Key Note Speaker will be Dr. Jacques P. Tremblay

Dr. Jacques P. Tremblay received a Ph.D. in Neuroscience from the University of California at San Diego in 1974. Since that time, he has been at Laval University as a postdoctoral researcher, Professor and Director of the Department of Anatomy. He is currently a full Professor in the Department of Molecular Medicine. He has worked specifically on myoblast transplantation* as a treatment for Duchenne muscular dystrophy. He has conducted a Phase I clinical trial of that potential therapy and he is currently conducting with Dr. Craig Campbell a Phase I/II clinical trial of that therapeutic approach. For the last 3 years, he also worked on gene correction with the CRISPR/Cas9 technology* for Duchenne muscular dystrophy, Friedreich’s Ataxia and Familial Alzheimer’s disease. This new exciting technology permits to correct mutations responsible for many hereditary diseases.


Dr. Tremblay will provide an overview of the basics of genes, messenger RNA and proteins and build a gradual understanding of how mutations in the dystrophin gene lead to Duchenne or Becker muscular dystrophy. He will then present the different therapeutic approaches currently investigated around the world: prednisone, deflazacort, myoblast transplantation, exon skipping, micro-dystrophin and correction of the dystrophin gene with the new CRISPR/Cas9 technology.

*Transplanting myoblasts

Consists of transplanting healthy muscle cells, called myoblasts, into forearm muscle in Duchenne patients and measuring muscle strength at 3 and six months posttransplantation. This trial is for patients aged 16 and over.

*CRISPR / Cas9 technology

CRISPR/cas9 technology is a technology that was first identified in bacteria. Bacteria were using this to cut up the genome of the viruses that were infecting them. About five years ago, researchers noticed that this technology allows not only to cut up virus genes but that it can also cut genes in animals, plants and especially in humans.


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

RARE DISEASE DAY – February 29, 2020

February 29, 2020, will be the thirteenth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organizations from countries and regions all over the world will hold awareness-raising activities. 

What is the rare disease day?

The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, this month is known for having a ‘rare’ number of days. Rare Disease Day is the opportunity advocate for rare diseases as a human rights priority at local, national and international levels for a more inclusive society.

Rare Disease Day takes place on the last day of February each year. The primary objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives. 

Building awareness of rare diseases is important because 1 in 20 people will live with a rare disease at some point in their life. There is no cure for the majority of rare diseases, and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision-makers to address the needs of those living with rare diseases.

Because it manifests itself only rarely, Duchenne muscular dystrophy (DMD) falls within the rare diseases category.  Learn about our history here.

Raising awareness of what it means to be rare. There are over 300 million people worldwide living with a rare disease. Together across borders, and across the 6000+ rare diseases we need more equitable access to diagnosis, treatment, care and social opportunity.


Rare is many worldwide Rare is strong every dayRare is proud everywhere


Statistics and facts

  • 300 million people living with a rare disease worldwide
  • Over 6000 different rare diseases
  • 72% of rare diseases are genetic
  • 70% of those genetic rare diseases start in childhood
  • Rare diseases currently affect 3.5% – 5.9% of the worldwide population.
  • If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country. In Quebec, it is estimating that close to one in 20 people will be affected or have a rare disease, which means nearly 500,000 Quebeckers.
  • 30% of children with rare disease will not live to see their 5th birthday
  • Rare diseases are responsible for 35% of deaths in the first year of life.
  • Only 5 percent of rare diseases have treatments. Drug research that helps a limited number of people can be cost-prohibitive for pharmaceutical companies.


Follow Rare Disease Day

Stay up to date with the latest news from this year’s Rare Disease Day campaign by following them on Facebook, Twitter and Instagram.


Finding a support group is important

A rare disease can be isolating for the patient as well as for the caregiver, especially when it’s your child who has the condition. Connecting with others can be essential, not only for support but also to share information and resources.

The Quebec Coalition for Orphan Diseases (RQMO) works to provide information and support to patients, their families, and healthcare professionals. Their website is full of relevant information both for professionals and caregivers. These rare diseases are often of little interest to researchers and organizations who fund research. The RQMO aims to advance knowledge about the various rare and orphan diseases by promoting exchanges between patients and researchers.

The Canadian Organization for Rare Disorders (CORD) is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong collective voice to advocate for health policy and a healthcare system. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment, and services for all rare disorders in Canada.

February 29th is the Rare Disease Day to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.


We wish to emphasize that the information contained in this article comes mainly from the RQMO website, the CORD website and the Rare Disease Day website.

We thank them.


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.



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



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

SOURCE PTC Therapeutics, Inc.