Research
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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DMD Progression Studied in Very Young and Nonwalkers
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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Viagra May be Heart Helper in DMD
Results from a recent study have shown that treatment with the drug sildenafil (brand name Viagra) conferred both long-term protection against cardiac (heart) dysfunction in younger mice, and rapid reversal of heart damage in aged mice with a disease resembling Duchenne muscular dystrophy (DMD).Cardiac disease in individuals with DMD or Becker muscular dystrophy (BMD) manifests most often as cardiomyopathy (heart-muscle weakness) or as an irregular heartbeat known as cardiac arrhythmia. The condition, often developing in childhood and the early teens in individuals with BMD or DMD, can result in congestive heart failure.
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Two-Drug Combo Makes a Difference in FA
Results from a clinical trial conducted in Spain involving 20 individuals with Friedreich's ataxia (FA) show that a combination therapy using two drugs, idebenone and deferiprone (DFP), demonstrated a "stabilizing effect" in neurological function and reduced abnormal heart-muscle enlargement in participants who received the two-drug combo for a period of 11 months.
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Low-Dose Ataluren Shows Some Benefit in DMD/BMD
A low-dose regimen of ataluren (formerly called PTC124), an experimental drug developed by PTC Therapeutics to treat Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) caused by a certain type of genetic mutation, is superior to a high-dose regimen or a placebo.PTC announced the findings at the 15th International Congress of the World Muscle Society, held in Kumamoto, Japan, Oct. 12-16, 2010, and in an Oct. 15 press release. (See Pivotal Data Presented at the World Muscle Society Congress Suggest Ataluren Slows the Loss of Walking Ability in Patients with Nonsense Mutation Duchenne/Becker Muscular Dystrophy.)
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Immune Response Must Be Considered in DMD Gene Therapy
Editor's note: This story was updated April 27, 2012. Immune-system rejection of newly synthesized dystrophin protein occurred in at least some of the boys with Duchenne muscular dystrophy (DMD) who participated in a safety trial of dystrophin gene therapy.The finding was a partial surprise to researchers and demonstrates the value of small, phase 1 clinical trials.
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Cardiomyopathy in Becker MD
In many forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), weakness and degeneration of the cardiac muscle can be a major part of the disease, and one that frequently shortens life.Now, doctors at Ohio State University and Nationwide Children's Hospital in Columbus, Ohio, as well as Washington University in St. Louis and the University of Utah in Salt Lake City, have identified specific mutations in the dystrophin gene that predict whether heart muscle weakness (cardiomyopathy) will occur earlier or later in the course of BMD.
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James Lupski’s story has all the elements of a good sci-fi tale: a research scientist determined to uncover the cause of his own genetic disease, a friend and colleague who’s also an intrepid gene hunter, and a futuristic technology that not only pinpoints the molecular cause of the research scientist’s disease, but also opens the door to a new era of personalized medicine.
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Help Today, Help Tomorrow is Goal of MDA's Duchenne Clinical Research Network
Update (June 16, 2014): As of June 2014, the following seven centers comprise the MDA DMD Clinical Research Network: University of California, Davis; Nemours Children's Hospital, Orlando, Fla.; Boston Children's Hospital; University of Minnesota Medical Center, Minneapolis; Washington University, St. Louis; Nationwide Children's Hospital, Columbus, Ohio; and Children's Medical Center of Dallas.
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DMD Clinical Research Network Studying Dystrophin-Deficient 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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