Without research, there are no new treatments
Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500 – 5,000. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls.
It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.
Clinical trials provide early access to treatments, contribute to medical knowledge about a condition, help guide future research, and have the potential to impact how people with the same condition are treated in the future.
ECS can help find a clinical trial that matches your condition. Their mission is to help every Canadian patient find a clinical trial that matches his/her medical condition. These services are free. You can fill out the form here.
In collaboration with Simplified Clinical Trials, here are the clinical trials currently taking place in Canada and Quebec. For more information on clinical trials being recruited in Canada for DMD, go to clinicaltrialssimplified.com.
There are currently eight clinical trials underway for Duchenne muscular dystrophy in Canada, two of which have sites in Quebec: myoblast transplantation and the trial of Vamorolone.
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.
- Transplanting myoblasts with a normal dystrophin gene can result in healthy muscle cells — a way to treat this devastating disease and alleviate the suffering of patients and their families.
- Clinical Trials, Canadian Institutes of Health Research
The second trial aims to investigate the efficacy and safety of a drug called Vamorolone, a glucocorticoid, in boys with Duchenne aged 4-7 years.
- Vamorolone is an investigational drug that was developed as a dissociative steroid. This means that its chemical profile is such that it may be shown to chemically separate the aspects of efficacy (clinical benefit) from safety concerns (side effect profiles).
- Clinical Trials, ReveraGen BioPharma
Here are details of the six trials that are taking place elsewhere in Canada and that do not have a site in Quebec at this time: RO7239361, Givinostat, Edasalonexent, ESSENCE study (SRP-4045 and SRP 4053), Ataluren and Exondys 51.
In this trial, a drug called RO7239361 is tested in boys with Duchenne aged 6 to 11 years. RO7239361 is a medicine that acts on myostatin, a protein that decreases muscle growth.
- The RO7239361 binds to a protein called myostatin and limits its function. Myostatin is a naturally occurring protein that is produced by the body to stop muscles growing too large. Limiting myostatin has been shown in some studies to increase muscle mass. The hope is that stopping myostatin could increase muscle growth in children with Duchenne.
- Clinical Trials, Roche
This trial involves a drug called Givinostat in boys with Duchenne aged 6 to 17 years. Givinostat is tested for its ability to increase the ability of muscles to regenerate.
- Studies show that Duchenne patients have higher-than-normal HDAC levels. Researchers believe this is a result of a chain of events, triggered by the lack of dystrophin. Increased HDAC activity may prevent muscle regeneration and prevent muscle fibers from contracting properly. It also can trigger inflammation. The treatment has been shown to decrease inflammation in mouse models of Duchenne. Muscles became larger with less fibrosis and fat. Mice also performed better in a treadmill exercise after the treatment.
- Italfarmaco, Clinical Trials, Muscular Dystrophy News Today
This trial tests a drug called Edasalonexent in boys with DMD aged 4 to 7 years. Edasalonexent acts on NF-kB, a protein that contributes to muscle degeneration in DMD.
- Edasalonexent (CAT-1004 is being developed as a potential foundational disease-modifying therapy for all patients affected by DMD, regardless of their underlying mutation. It is an investigational oral small molecule. Edasalonexent inhibits NF-kB, a protein that is activated by DMD and drives inflammation and fibrosis, muscle degeneration and suppresses muscle regeneration. By inhibiting NF-kB, edasalonexent has the potential to decrease inflammation and fibrosis, promote muscle regeneration, and slow disease progression. Edasalonexent was designed as a stand-alone therapy and may also enhance the efficacy of dystrophin targeted therapies.
- Clinical Trials, Catabasis, PolarisDMD
SRP-4045 et le SRP-4053
This trial tests SRP-4045 and SRP-4053 in boys with Duchenne aged 7 to 13 years. SRP-4045 and SRP-4053 make it possible to skip the damaged portion of the dystrophin gene to allow the production of a shorter form of this protein.
- Mutations in the dystrophin gene are one cause of DMD. Most commonly, one or more exons (a portion of a gene) are missing, and the remaining exons don’t fit together correctly. (Think of a zipper that doesn’t work properly because teeth are missing.) Because of this error, cells cannot make the dystrophin protein that muscles need to work properly. Without it, muscle cells become damaged and, over time, are replaced with scar tissue and fat. To fix the broken genetic machinery, scientists are developing drugs that skip over parts that contain missing or defective exons. In this way, the machinery can produce a less imperfect dystrophin protein, which may improve muscle function in children with exon mutations. Sarepta investigational therapies in the ESSENCE study use a technique referred to as exon skipping. Skipping a specific exon next to the mutation is intended to allow the body to make a shortened form of the dystrophin protein.
- Clinical Trials, Sarepta, ESSENCE Study
This trial tests Ataluren in male patients with DMD aged 5 years and older.
- Ataluren is an investigational therapy being studied for the treatment of people with nmDMD who are still able to walk and aged five years or older. It is administered three times per day, mixed with a liquid or semi-solid food and taken orally. People with nmDMD are unable to produce a protein, dystrophin, which helps keep muscles healthy. Without dystrophin, muscles become weaker over time. PTC Therapeutics is studying ataluren to determine if it helps the body produce dystrophin, which may help slow down muscle weakening.
- La Force’s blog, Clinical Trials, PTC Therapeutics
Exondys 51, SRP-5051
This trial tests SRP-5051 in male patients with DMD aged 12 years and older. SRP-5051 consists of Exondys 51 to which a peptide has been conjugated to enhance tissue penetration.
- This treatment uses a specific exon-skipping technique to jump over a portion of genetic machinery that produces a non-working, mutated form of dystrophin in children with DMD. It aims to restore the machinery’s ability to read genetic code, so it can produce a less mutated form of dystrophin that works in children with DMD. The production of partly functional dystrophin may delay muscle destruction and extend mobility in children with this devastating, rare disease. More specifically, Exondys 51 (eteplirsen) triggers the skipping of exon 51, which occurs in 13% of children with DMD.
- Clinical Trials, Sarepta
For more information on clinical trials currently recruiting in Canada for DMD, visit clinicaltrialssimplified.com/Muscular dystrophy
To participate in a clinical trial on DMD, please complete the registration form on clinicaltrialssimplified.com. For more information, contact CTS at email@example.com or at 1-888-982-2782.