Research
SMA Research Briefs: Antisense and Fasudil
Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells that control muscles (motor neurons) in the spinal cord die, causing progressive weakness in the voluntary muscles.The underlying cause of SMA is a deficiency of SMN protein, which cells normally produce using genetic instructions carried by two nearly identical genes in the body: SMN1 and SMN2. (SMN stands for "survival of motor neurons".) The deficiency occurs when flaws in the SMN1 gene render its genetic instructions unusable. Some — but not enough — SMN protein is produced from the instructions carried by the SMN2 gene.
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Why Does It Take So Long To Go from Mouse to Man?
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human clinical trials. Why does it take so long?
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MDA Funds Clinical Studies of Reformulated Drug for DMD
MDA has awarded $750,000 to Summit Corporation PLC for development and testing of SMT C1100, the company's experimental drug for treatment of Duchenne muscular dystrophy (DMD). Summit is an Oxford, United Kingdom, drug discovery company.The award was made through MDA's Venture Philanthropy (MVP) arm, a part of MDA's translational research program.
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Research Briefs: The DMD/BMD-Affected Heart
In both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), deterioration of the heart muscle, a condition known as cardiomyopathy, is a major cause of disability and death.DMD and BMD both result from mutations in the gene for dystrophin, a protein found in muscles controlling body movement and respiratory effort, as well as in the heart. When dystrophin deficiency is complete (or nearly complete), the disease is known as DMD. When there's a partial deficiency of dystrophin, the result is BMD.
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FDA Approves Phase 1 Clinical Trial of RG3039 in SMA
In a historic first, biotech company Repligen Corp., of Waltham, Mass., has received approval from the U.S. Food and Drug Administration (FDA) to begin a phase 1 clinical trial of the experimental drug RG3039 for spinal muscular atrophy (SMA).This marks the first human trial of a drug specifically designed to treat SMA. RG3039 is a small-molecule compound designed to increase cellular levels of the SMN protein, which is deficient in SMA.
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Research Briefs: BMD, DMD, EDMD, FA, LGMD, OPMD, Pompe disease, SMA
Santhera Pharmaceuticals announced May 9, 2011, that its drug Catena (generic name idebenone) appears to slow the decline in respiratory function associated with aging in people with Duchenne muscular dystrophy (DMD). Idebenone may improve energy production in muscle and nerve cells.The announcement, made at the 4th International Congress of Myology in Lille, France, reflects the first analysis of a two-year, open-label extension study (DELPHI Extension). (“Open-label” means everyone in the trial received Catena. There was no placebo group.)
Read MoreResearch Updates Spring 2011
In this issue: MDA awards 44 new research grants * A recently discovered gene variant may indicate severity of DMD * Heart care in Duchenne MD and Becker MD addressed at MDA-sponsored meeting * Duchenne-Becker 'read-through' drug to begin development * Flow charts may aid in diagnosing CMT
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Doctors Talk Heart to Heart
Update (Jan. 23, 2013): As of early 2013, MDA's DMD Clinical Research Network includes these five sites: University of California, Davis (UC Davis); Nemours Children's Hospital in Orlando, Fla.; Washington University in St. Louis; Nationwide Children’s Hospital in Columbus, Ohio; and Children's Medical Center in Dallas. See Help Today, Help Tomorrow is Goal of MDA's Duchenne Clinical Research Network to learn more.
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FA: Idebenone Clinical Trials
Overall, idebenone has been shown to be safe and well-tolerated in a number of phase 1, 2 and 3 human clinical trials dating back to 1999. The most common side effects are mild to moderate gastrointestinal issues such as diarrhea, nausea and indigestion. Early trials at low doses first demonstrated the potential for idebenone to reduce FA-associated cardiomyopathy (heart muscle abnormality).
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FA: Everything is Treatable, Even if Not Yet Curable
Susan Perlman, M.D., director of the Ataxia Clinic, Department of Neurology, University of California-Los Angeles, is a neurologist who’s been doing research in, and taking care of individuals with, Friedreich’s ataxia (FA) for some 30 years. In November 2010, she talked with Margaret Wahl, MDA’s medical and science editor.
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