LOUISVILLE BIOCHEMIST AWARDED $349K MDA GRANT TO ADVANCE POSSIBLE NEW DRUG TREATMENT FOR DUCHENNE MUSCULAR DYSTROPHY

TUCSON, Ariz., Aug. 18, 2010 — For more than 20 years, medical researchers have known the genetic defect that causes Duchenne muscular dystrophy (DMD), a progressive neuromuscular disease affecting one out of every 3,500 boys.  To overcome that defect, investigators worldwide have been focusing on ways to insert a healthy gene that expresses the structural protein, dystrophin, which is absent in the disease, or to repair the mutated gene so that it expresses that vital protein.

They've also been keenly interested in finding compounds to modify gene expression and/or to block the destruction of muscle tissue at the cellular level.  Ashok Kumar, Ph.D., at the University of Louisville Research Foundation, recently discovered that, when a muscle enzyme called a matrix metalloproteinase (MMP) is blocked by drug intervention, muscle damage caused by DMD can be reduced.

Ashok Kumar, Ph.D.

One of 38 research leaders awarded $14.1 million in new multiyear grants by MDA’s Board of Directors at its July meeting; Kumar will receive $349,000 to advance promising work using FDA-approved drugs to counter the MMP muscle enzyme.  This is the second MDA grant awarded to Kumar since 2004, and the biochemist's novel approach to therapy could prove beneficial for treating other neuromuscular diseases, too. 

“At Baylor College of Medicine, I found that the kids who have DMD are extremely weak and suffering. There is no treatment, so I decided that’s what I was going to work on and find out how we can treat it,” said Kumar.

Research grant applications are peer-reviewed twice yearly by MDA’s Medical and Scientific Advisory Committees, comprising world-renowned experts in neuromuscular disease research.  The most promising of some 500 applications received each year are recommended for funding to the MDA Board of Directors.

According to R. Rodney Howell, M.D., chairman of the MDA Board of Directors, “Generous Americans responding to the annual Jerry Lewis MDA Telethon, and to thousands of other special events benefiting the families served by MDA, deserve much of the credit for the rapid progress being made toward treatments for neuromuscular diseases.  It’s their strong belief in MDA’s capable stewardship of public funds that’s enabling so much to be accomplished — even in a sluggish economy.”

Louis M. Kunkel, Ph.D., chairman of the MDA Scientific Advisory Committee, and the research pioneer who discovered the defective gene that causes Duchenne and Becker muscular dystrophies, is encouraged by Kumar's research.

“By refining the understanding of how FDA-approved drugs can block a destructive enzyme, Dr. Kumar's work could speed the introduction of a new treatment that clinicians could prescribe to help protect the muscles of patients being ravaged by Duchenne dystrophy,” said Kunkel.  “The work ultimately could have broad implications for treating other forms of muscular dystrophy, and could enjoy a smoother journey through the FDA regulatory process that governs drug approval in the United States.”

Often credited for its leadership in building the field of neuromuscular disease research, MDA also has enhanced clinical care for people affected by muscle disorders, achieving important quality of life and longevity gains.  MDA has invested almost $39 million in 2010 in research worldwide and is the first nonprofit to earn a Lifetime Achievement Award from the American Medical Association (“for significant and lasting contributions to the health and welfare of humanity”).

MDA-funded scientists have uncovered the genetic defects that cause several forms of muscular dystrophy; Charcot-Marie-Tooth disease (CMT); a form of amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease); childhood spinal muscular atrophy (SMA) and other neuromuscular conditions. Now entering a period of increasing numbers of clinical trials of potential therapeutics, the Association’s network of approximately 200 hospital-affiliated clinics is instrumental in identifying appropriate candidates for clinical trials; and to help refine outcome measures for those clinical trials.

More than 1 million Americans are affected by neuromuscular diseases.  Residents of Kentucky who are affected by any one of the more than 40 muscle diseases covered by MDA’s program can receive medical care at the MDA Clinic at Baptist Hospital East in Louisville.

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education. For more information on MDA research and programs, go to www.mda.org. 

For more information about these new grants, visit MDA's "Grants at a Glance," an online slideshow that showcases each grant with photos and detailed information.