Research
In Focus: Limb-Girdle Muscular Dystrophy
Say “limb-girdle muscular dystrophy” to most people, and you’ll get a questioning look. They may wonder what kind of girdle is being talked about and how limbs fit into the picture.The name actually comes from an anatomical term describing the supporting structures of the shoulders and hips, including bones and muscles. Limb-girdle muscular dystrophy (LGMD) is a genetic disorder in which the muscles surrounding the hips and shoulders degenerate.
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SMA: Full Speed Ahead
August is often referred to as Spinal Muscular Atrophy (SMA) Awareness Month, but for MDA, work on finding treatments for this degenerative disease — and providing assistance to individuals and families affected by it — is a year-round event.Today, research aimed at slowing, stopping or even preventing spinal muscular atrophy (SMA) is advancing with more speed and greater momentum than ever before. Here’s a roundup of some of the exciting research MDA has supported in the fight against SMA.
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CMD: Aiming Simultaneously at Two Biological Targets
Researchers at Boston University, supported in part by MDA, say their experimental two-pronged strategy for merosin-deficient congenital muscular dystrophy (MDC1A) was highly successful in a mouse model of this disease and should be further investigated as a potential treatment approach for patients.
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UPDATE: ACE-031 Clinical Trials in Duchenne MD
Update (May 2, 2013): In a May 2, 2013, press release, Acceleron Pharma and Shire PLC announced that they have concluded their collaboration on ACE-031 and related molecules, and will not restart the development of this program. John Knopf, CEO of Acceleron, said, "While we are disappointed in the outcome of the ACE-031 program, the research provided valuable insights that can be applied across Acceleron's pipeline of novel compounds and may benefit other patients in the future."
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MDA Establishes Myotonic Dystrophy Clinical Research Network
MDA has launched a new, five-center clinical research network focused on type 1 and type 2 myotonic muscular dystrophy (MMD1 and MMD2, also known as DM1 and DM2), with the principal goal of preparing for testing of new MMD treatments as they become available.Each center in the new network has a particular interest and expertise in MMD, and the centers are distributed across the United States to maximize opportunities for participation in studies. Neurologist Charles Thornton at the University of Rochester Medical Center is the network's overall principal investigator.
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MMD Research: Targeted Destruction
Thomas Cooper, a professor in the Department of Pathology and Immunology at Baylor College of Medicine, is a longtime MDA research grantee who has current MDA support to develop oligonucleotide-based therapies for myotonic muscular dystrophy (MMD, also known as DM).Margaret Wahl, MDA's medical and science editor, talked with Cooper about his research.
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MMD Research: Seeking to Free Proteins from a ‘Toxic Web’
The complex and multifaceted disease known as myotonic muscular dystrophy (MMD) — also known as dystrophia myotonia (DM) — was the subject of an In Focus report in the April-June 2012 Quest.Here, we delve into experimental strategies that may markedly improve the outlook for people with this disorder.
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SMA Research Briefs: New Gene ID'd, Disease Modifier Explored
Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells (motor neurons) that control muscles in the spinal cord die, causing progressive weakness in the voluntary muscles. Flaws in the tail-end of the cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) gene lead to a rare form of SMA, a team of researchers from the United States and United Kingdom has reported.
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Excessive Daytime Sleepiness Can Be 'Debilitating' in MMD1 and MMD2
Thirty-two-year-old Doug Hayes has struggled with some of the cognitive and social features of type 1 myotonic dystrophy (MMD1 or DM1) most of his life. But there’s something else that’s contributed to his difficulties with jobs and schooling: daytime sleepiness. Doug recently had a job scanning documents, his father says, but his daytime sleepiness interfered.
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SMA Disease Course May Be Affected by ZPR1
Adequate levels of zinc finger protein 1 (ZPR1) appear to be a "protective" modifier of spinal muscular atrophy (SMA), an MDA-supported team of scientists has reported.Modifiers influence disease onset and severity by changing various biological pathways.The identification of ZPR1 as a modifier reveals a potential target for therapy development and also sheds light on the mechanisms that drive SMA.
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