The year 2011 saw a continuation of MDA’s commitment to translational research, which helps turn promising laboratory findings into potential treatments for neuromuscular diseases. At the same time, the Association continued full steam ahead with its basic research program, which is where promising laboratory findings originate.
In amyotrophic lateral sclerosis (ALS), a paralyzing and almost universally fatal disorder that strikes adults, MDA was thrilled to learn that the experimental drug it helped to develop for a familial form of the disease was well-tolerated in an early-stage clinical trial. The drug is designed to block synthesis of the SOD1 protein, which is toxic in this form of ALS.
In Duchenne muscular dystrophy (DMD), a devastating genetic disease that weakens muscles and shortens the lives of young men, MDA continued its support of a strategy called “exon skipping,” which coaxes muscle cells to reinterpret flawed genetic instructions and produce a functional protein despite the flaw. Two exon-skipping drugs, both based on MDA-supported basic research, have entered clinical trials in boys who have specific genetic mutations.
This also was a banner year for research in facioscapulohumeral muscular dystrophy (FSHD). This genetic disease, which often strikes in adolescence, has a special predilection for weakening the muscles of the face, upper arm and shoulder area. Thanks to much MDA-supported research, it’s now clear that a protein called DUX4 is inappropriately produced in muscle fibers in this disease. This finding represents a solid target at which potential therapies can now be aimed.
In two other diseases — Friedreich’s ataxia (FA) and spinal muscular atrophy (SMA) — MDA’s support of a biotechnology company has resulted in experimental medications targeting the underlying cause of each condition. The experimental drug RG2833 is designed to increase production of the frataxin protein, a deficiency of which causes FA. RG3039, developed by the same company with MDA’s help, is meant to increase levels of the SMN protein, a lack of which is the basic cause of SMA. Both drugs are poised to enter clinical trials.
The U.S. economy began to recover in 2011, although many financial challenges remained for the Association. Through it all, without compromise, we have continued to fund the research projects that are the most likely to improve the lives of those we serve.
R. Rodney Howell, M.D.
MDA Chairman of the Board of Directors