Metabolic Diseases of Muscle

Experimental Drug Being Tested in Mitochondrial and Metabolic Disorders, FA

Interim Results Suggest Chaperone Drug Enhances Enzyme Treatment in Pompe Disease

Biopharmaceutical company Amicus Therapeutics presented updated and encouraging results for its experimental Pompe disease (acid maltase deficiency) compound AT2220 this week at the 17th International Congress of the World Muscle Society in Perth, Australia.

MDA Commits $10.7 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Aug. 1.

Survey Examines Newborn Screening for Neuromuscular Disease

MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.

Research Briefs: Metabolic Muscle Diseases

New research mouse mimics McArdle disease

Research Briefs: BMD, DMD, Pompe disease

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

MDA Commits $12 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.

Immunosuppression Induces Tolerance to Enzyme Treatment in Pompe Disease

Editor's note 2/2/12:This story was updated to reflect the award of a  new MDA grant to Eric Sjoberg at Amicus Therapeutics.

Drugs that suppress the immune system can successfully prevent or reverse rejection of enzyme replacement therapy in Pompe disease (acid maltase deficiency),a new study has shown.

Trial Opens of 'Pharmacological Chaperone' in Pompe Disease

BioMarin Testing Drug in Late-Onset Pompe Disease

Update (March 27, 2013): BioMarin announced March 19, 2013, that it plans to move to a phase 2/3 trial of this drug for late-onset Pompe diseae, pending a review by regulatory authorities. See Pompe disease: Late-onset treatment moves forward.

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