Presented by PTC Therapeutics and in partnership with La Force DMD, the Defeat Duchenne Family Forum is a unique educational event that provides the opportunity for families and caregivers navigating the Duchenne journey, to come together with researchers, clinicians, and industry professionals for a day of education, inspiration, and hope.
While nothing can replace the support and sense of community when coming together in person, the health and safety of you – those living with Duchenne and family members – is our priority. With that said, we didn’t let COVID-19 stop us from providing access to the information you wanted. Initially scheduled for Saturday, May 2, 2020, at Shriners Hospitals for Children – Canada in Montréal, Québec, we transformed the one-day program into a series of four virtual events. The events took place from May 20 – 30, 2020, and more than 68 families from across Canada tuned in to hear the latest in Duchenne care and research.
Thank you to all of our families, sponsors, and speakers for participating and supporting this vital educational program.
Unable to attend the events? No problem! All four events were recorded and you can find the recordings by clicking into each event below or subscribing to our YouTube Channel.
You can also learn more about our sponsors, speakers, and the Defeat Duchenne Family Forum – Montréal by reading our event program here.
Presentation: “Genetics 101 & Duchenne”
Summary: 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.
Key Note Speaker: Dr. Jacques P. Tremblay, Laval University
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 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 three 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.
Presentation #1: “Transition to Adult Care”
Summary: With advances in modern medicine, more and more gravely ill children survive to adult age and families are even more responsible for their care. The transition from pediatric to adult care is an important milestone for youth with Duchenne muscular dystrophy and their family. This transition is multifactorial and also includes medical transfer. Many challenges can be present, including personal, social, familial and environmental aspects. The difference in culture between pediatric and adult medical care can also have an impact on families’ experience. The objective of this presentation is to provide an overview of the elements that may have an impact on transition and thus better guide young people and their parents. This presentation will be interactive and will involve public participation.
Speakers: Dr. Josée Larochelle, MD, FRCPC, MBA, Physiatre surspécialisée en pédiatrie – Physiatrist specialized in pediatrics & Anne-Sophie St-Pierre-Clément, Travailleuse sociale
Presentation #2: “Bone Health”
Summary: Muscles are important for bone development. It is therefore not surprising that boys with DMD often have increased risk of fracture. Treatment of DMD with glucocorticoids can increase the fracture risk further. Studies have shown that between 20% and 60% of boys with DMD have fractures of arms or legs. In addition, fractures of bones in the spine are very common. Such fractures in the spine can occur without symptoms and are often only noted when a spine x-ray is taken. Treatment with drugs from the class of bisphosphonates can help to improve bone density and bone strength. These drugs are therefore used to prevent further fractures.
Speaker: Dr. Frank Rauch, Shriners Hospital for Children – Canada, Montreal
Presentation #1: “Living Life to the Fullest (With Duchenne)”
Speaker: Samuel Lachaine – Editor in Chief, Sports Addik
Summary: Twenty-five years old living with Duchenne muscular dystrophy, Samuel has never let Duchenne discourage him. He has tried to do everything he could to achieve his dreams, including attaining a Bachelor’s Degree in Journalism, and now owning his own sports broadcasting website. He looks forward to sharing his experience at the Defeat Duchenne Family Forum: “If you never try something, you will never know if you can achieve it. Believe in who you are!”
Presentation #2: “RQMO & Duchenne”
Speaker: Gail Ouellette, Ph.D. – President and General Manager of RQMO
Summary: In this session, you’ll learn about the importance and mission of the RQMO: inform and support families affected by rare diseases via the iRARE Center; raise awareness in the medical community and the public regarding the specificities of rare diseases; disseminate and exchange information in the field of rare diseases, and bring together patients and researchers to advance knowledge on rare diseases.
Presentation #3: “Jesse’s Journey Advocacy Plan”
Speaker: Nicola Worsfold – Director of Research and Advocacy at Jesse’s Journey
Summary: Nicola’s role at Jesse’s Journey combines passion, purpose and skill. She spent 15 years working in Biotech and pharmaceutical companies in areas of infectious disease, hepatology and neurology later moving to medical affairs in neurology and rare disease. Her passion and career goals in the industry were always focused on putting the needs of individuals living with debilitating diseases as a priority. Little did she know she, too, would become one of those individuals as the parent of a child with a rare disease. Learn more about her personal experience and what Jesse’s Journey is doing to advocate for timely access to affordable treatments in Canada.
Presentation #1: “Clinical Trials 101 and Trials for Duchenne muscular dystrophy”
Summary: What are clinical trials and how do you navigate the ever-changing landscape of clinical trial opportunities in Canada? The purpose of a clinical trial is to verify the efficacy and safety of a new product tested in humans. Learn more about the mission of Clinical Trials Simplified, a free resource to help every Canadian patient find a clinical trial that matches their medical condition.
Speaker: Dr. Carole Abi Farah, CEO and Co-Founder of Clinical Trials Simplified (*due to sensitive information and confidentiality, the above presentation has been removed from the recording. If you wish to receive a copy, please email firstname.lastname@example.org*)
Presentation #2: “Vamorolone: Progress and Canadian Update”
Summary: What if we were able to provide a safer steroid that still improves DMD patient strength and mobility, and even works with dystrophin replacement therapies, but without the full range of side effects that prednisone and deflazacort show? Dr. Hoffman will discuss what Vamorolone is, the clinical trial evidence to date, and the latest updates regarding the new VBP15-006 clinical trial that has been supported by Jesse’s Journey in partnership with ReveraGen BioPharma to enable the activation of the trial in Canadian academic medical centers.
Speaker: Dr. Eric Hoffman, Associate Dean for Research at the School of Pharmacy and Pharmaceutical Sciences, Binghamton University
Plus Industry Updates:
- PTC Therapeutics
- Sarepta Therapeutics
- Catabasis Pharmaceuticals
- TRiNDS – Italfarmaco
- Pfizer Canada (*due to sensitive information and confidentiality, the above presentation has been removed from the recording. If you wish to receive a copy, please email email@example.com*)