You call it Duchenne…
We call it a neuromuscular disorder.
Alex Harold is starting his final year of university. He loves to play video games; cheer on his beloved Raptors and Leafs; and, he lives with Duchenne Muscular Dystrophy. Diagnosed at the age of four, Alex demonstrates every day that a diagnosis does not define you. He has fought tirelessly for the accessibility he needs to finish his degree, and his hard work has helped others dealing with their own accessibility challenges.
He wants you to know that while you may have another diagnosis or a different genetic condition, he is here with you to fight all forms of neuromuscular disorders.
What you need to know about Duchenne
Duchenne Muscular Dystrophy (DMD) is a genetic disease characterized by a progressive muscle degeneration. It is caused by an absence of dystrophin, a protein that supports the integrity of muscle cells. Symptoms are usually detected in early childhood. The disease primarily affects boys but in rare cases can also affect girls.
Symptom onset can be as early as age three and usually affects the muscles of the hips, pelvis and shoulders, progressing to the skeletal muscles. By the early teens, the heart and respiratory muscles may also be affected. A diagnosis of DMD includes a shortened life expectancy and the expectation that eventually, equipment such as a wheelchair and respiratory aids will be required. With exciting new advances in research into DMD over recent years, incredible increases in quality of life and life expectancy are being experienced by patients.
MDC supported researchers are actively pursuing exciting new strategies to help those impacted by DMD.
Last year Dr. Michael Rudnicki and his team at The Ottawa Hospital announced one of the most exciting breakthroughs in DMD research in recent years. They discovered a completely new protein complex that is missing in people with Duchenne Muscular Dystrophy (DMD). This research represents a profound new insight into DMD and brings us another step closer to developing new treatments.
Learn more about Dr. Rudnicki’s promising research
In addition, we’ve also partnered with our friends at Jesse’s Journey to support Dr. Anthony Gramolini who is exploring gene therapy treatments for DMD using the CRISPR/Cas9 treatment protocol.
Learn more about this exciting new research project
Duchenne Muscular Dystrophy Clinical Trials
There are currently 10 DMD trials in various stages of completion in Canada. See the list below for more information:
- Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy
- Transplantation of Myoblasts to Duchenne Muscular Dystrophy (DMD) Patients
- A Study to Assess the Efficacy and Safety of Vamorolone in Boys With Duchenne Muscular Dystrophy(DMD)
- Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy
- Phase III Study of Edasalonexent in Boys WithDuchenne Muscular Dystrophy
- Study of SRP-4045 and SRP-4053 in DMD Patients
Enrolling by Invitation
- Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)