Spotting Neuromuscular Disease in Adults

After years of denial, it was the stairs to his second-floor college apartment that forced Chris Anselmo to finally face his limb-girdle muscular dystrophy (LGMD) in 2009. “I remember moving in, trying to carry things like my desk chair to the top of the stairs, and just feeling completely weak and exhausted by the time I reached . . .

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Introducing New MDA National Ambassador Keisha Greaves and Checking in With Ambassador Ethan LyBrand

Beginning in the early 1950s, when public awareness and understanding of muscular dystrophy and related neuromuscular diseases were extremely limited, MDA began calling upon individuals living with these diseases to serve as National Ambassadors, telling their personal stories and inspiring support of MDA. More than 40 MDA National Ambassadors, including children and adults, have met U.S. . . .

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Research Study Alert: LGMD2I Natural History Study

Researchers at ML Bio Solutions are seeking individuals living with limb-girdle muscular dystrophy type 2I (LGMD2I, LGMD R9-FKRP-related) to participate in a 12-month natural history study. The objective of this observational study is to identify appropriate endpoints that will be used in the phase 3 clinical trial of BBP-418 (ribitol). Data gathered may include: Fine-needle muscle biopsy . . .

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How MDA is Supporting LGMD Research and Care in 2020

On July 18, MDA is hosting a free virtual Engage Limb-Girdle Muscular Dystrophy Symposium, a half-day educational event featuring key experts who will speak on topics including the latest in genetics and research in limb-girdle muscular dystrophy (LGMD). MDA has a longstanding commitment to finding treatments for the more than 30 subtypes of LGMD; since . . .

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Hacking COVID: MDA Staff Edition

In April, MDA fielded a survey to ask its community how COVID-19 was impacting their lives. We heard your responses — anxiety, questions, hope — and wanted to know more. In this six-part blog series, Hacking COVID, people from MDA’s community, all living with neuromuscular diseases, shared how they’ve altered their day-to-day lives, how they’ve . . .

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Sarepta Therapeutics Announces Positive Results from the SRP-9003 Gene Therapy Trial to Treat LGMD2E

On June 8, Sarepta Therapeutics announced positive results from its first study in human patients of SRP-9003, a gene therapy designed to treat limb-girdle muscular dystrophy (LGMD) type 2E. Data from low-dose and high-dose patient cohorts indicated that a single intravenous infusion of SRP-9003 was well tolerated, with only one serious adverse event occurring in . . .

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Research Study Alert: Researchers at Virginia Commonwealth University Seek Participants for a LGMD2I Natural History Study

Researchers at Virginia Commonwealth University are seeking participants living with limb-girdle muscular dystrophy type 2I (LGMD2I) to participate in a natural history study. This study aims to better understand disease course so researchers will be able to determine clinically meaningful outcome measures for use in future clinical trials, including the utility of dystroglycan as a biomarker. This two-year . . .

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Clinical Trial Alert: LGMD2I Participants Sought for a Phase 3 Study

Researchers at PTC Therapeutics are looking for individuals with limb-girdle muscular dystrophy type 2I (LGMD2I) to participate in a phase 3 study. The goal of the study is to evaluate the efficacy of deflazacort (Emflaza), which researchers hope may reduce inflammation in muscles and potentially lead to improved muscle strength and motor function. Participants will . . .

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