Muscular Dystrophies

MD — Kathryn Wagner, M.D., Ph.D.

MDA has awarded a research grant totaling $362,760 over three years to Kathryn Wagner, an associate professor of neurology and neuroscience at the Johns Hopkins School of Medicine and director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute, both in Baltimore.

Research Briefs: BMD, DMD, Pompe disease

PTC begins non-US study of ataluren in DMD/BMD

MDA Hosts National Becker MD Conference in August

Update (Sept. 7, 2012): Videos of all presentations from the BMD Conference have been archived on MDA's BMD Conference video page. For a brief synopsis of each video, see BMD Conference Videos Cover Health Care, Research and Daily Living.

Stop Codon Read-Through Drug Performs Well in DMD Mice

An experimental drug called RTC13, designed to treat Duchenne muscular dystrophy (DMD) by restoring production of the muscle protein dystrophin, has shown promise in experiments in dystrophin-deficient mice that have a DMD-like disease.

RTC13's MDA-supported developers say they're optimistic about the compound but that refinement of its chemistry and further testing will be needed before it can be taken into clinical trials in people with DMD.

MDA Symposium Looks at Partnerships Between Industry and Academia

Enhancing collaboration and transfer of technology between academia and industry was the subject of MDA's recent Translational Research Symposium, one of a series of four MDA-sponsored research symposia scheduled in 2012.

The symposium was held June 27 in New Orleans, in conjunction with the 2012 New Directions in Biology and Disease of Skeletal Muscle Conference.

Stem Cell Briefs: Contributions of PAX7, S1P, MCAM

Update (July 10, 2012) — This story was updated to reflect the availability of a podcast with MDA research grantee Emanuela Gussoni, who discusses the development of stem-cell-based treatments for muscular dystrophies.

DMD: Phase 2 Trial of GSK Exon-Skipping Drug Opens in US

Update (April 9, 2013): The U.S.-based phase 2 trial of drisapersen stopped recruiting new participants in January 2013. Results are expected in early 2014.

Update (Aug. 15, 2012): GlaxoSmithKline's exon-skipping drug GSK2402968 has been given a new generic name, "drisapersen."

Podcast: Howard Worman Discusses Research Related to Heart Disease in EDMD and LGMD1B

Recently, MDA grantee Howard Worman at Columbia University, and colleagues, published encouraging results about the effects of a drug called selumetinib on the hearts of mice with a genetic mutation that's found in a form of Emery-Dreifuss muscular dystrophy (EDMD)

MDA Urges Legislators to Speed Up Approval of Rare Disease Drugs

Update (July 10, 2012) —Reauthorization of the Prescription Drug User Fee Act (PDUFA) was signed by President Obama on July 9, 2012, complete with a provision that creates an accelerated approval pathway for drugs for rare diseases.

Selumetinib Helps Heart in EDMD Mice

Update (June 1, 2012): This story was updated to include the availability of a podcast on this topic.

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