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Duchenne muscular dystrophy, which generally affects males, is caused by a mutation in a gene called dystrophin. DMD causes generalized weakness and muscle wasting first affecting the muscles of the hips, pelvic area, thighs and shoulders. Calves are often enlarged. DMD eventually affects all voluntary muscles, and the heart and breathing muscles. Survival is rare beyond the early 30s. A less severe variant is Becker muscular dystrophy.
Research Pipeline
Since MDA-sponsored researchers found that DMD and BMD are caused by mutations in a specific gene called dystrophin in 1986, research into the diseases has flourished. In the last decade, this research has resulted in an explosion of potential treatments, many of which are now in preclinical development or in clinical trials.
Research strategies
In 2008, 31 companies and researchers have treatments for DMD under development. Strategies for treating the disease include:
- Gene therapies in which a correct version of the dystrophin gene is inserted into muscle cells
- Stem cell therapies where cells that contain the correct gene are inserted to produce dystrophin
- Gene correction techniques in which cells are coerced to ignore one type of mutation
- Gene correction techniques in which cells produce usable protein by skipping over the small area where the mutation lies
- Small-molecule treatments or biologics that increase muscle mass
- Techniques by which proteins related to dystrophin are increased to compensate for the missing dystrophin
- Treatments to reduce muscle degeneration
- Treatments to alleviate specific problems such as cardiac issues associated with muscular dystrophies
Translational Research: DMD Projects with Promise
In 2003, MDA started its Translational Research Program, which funded research projects into potential therapies. Through this program, a $15 million grant supported an initial trial for PTC124, a small molecule drug developed by PTC Therapeutics that causes cells to "ignore" one type of mutation that causes DMD. This drug is in a Phase IIb trial today.
MDA also provided $1.5 million to Asklepios Biopharmaceuticals to perform a Phase I study of a gene therapy technique which resulted in muscle producing small amounts of dystrophin. This company, with an additional $2.5 million from MDA, is further developing this technique for later stage trials.
In related projects, MDA is also funding $2 million of a Phase II trial of a growth factor developed by Insmed Incorporated for treatment of myotonic dystrophy. This trial is underway now.
The MDA translational program has funded a number of successful projects to date, and all of these projects and many others based on research that came from MDA-sponsored laboratories, are continuing. MDA Venture Partners will continue to fund the most promising technologies in muscular dystrophy research. |
