Pompe Disease (Acid Maltase Deficiency)

Genzyme and MDA Provide Pompe Families with Free Testing

Pompe disease (acid maltase deficiency, or GAA deficiency) shares symptoms with several other disorders and, in the absence of specific testing, can sometimes be confused with these other conditions.

MD Briefs: Registries Are Still Open

FSHD, MMD: Registry remains open

The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.

Newborn Screening Recommended for Pompe Disease

The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

Research Briefs: DMD, Leigh Syndrome, MG, Periodic Paralysis, Pompe Disease

Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.

Pompe Disease, DMD: Newborn Screening Proposed

Proposals exploring the feasibility and advisability of implementating newborn screening for two disorders in MDA's program — Duchenne muscular dystrophy and Pompe disease— were presented to a federal advisory committee in a "virtual" meeting Jan. 31 and Feb. 1, 2013.

Pompe Disease 'Chaperone' Drug Moving Forward

The experimental drug AT2220 has shown benefit as an enhancer of enzyme replacement therapy for the metabolic muscle disorder Pompe disease (acid maltase deficiency).

The drug, a pharmacological chaperone, is designed to:

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.

Sizing Up Early Enzyme Replacement for Pompe Disease

A study of 11 children with infantile-onset Pompe disease (acid maltase deficiency) who started enzyme replacement therapy by the time they were 6 months old has shown the treatment can markedly improve the course of the disease, but that residual deficits persist.

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