Pompe Disease (Acid Maltase Deficiency)

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.

Metabolic Diseases of Muscle

Description: 

MDA leads the search for treatments and therapies for metabolic diseases of muscle. The Association also provides comprehensive supports and expert clinical care for those living with metabolic diseases of muscle.

In this section, you’ll find up-to-date information about metabolic diseases of muscle, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

Here you will find information about 10 of the most common metabolic diseases of muscle:

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Overview

What are metabolic diseases of muscle?

Muscles and organs affected in metabolic diseases

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

Research Briefs: BMD, DMD, EDMD, FA, LGMD, OPMD, Pompe disease, SMA

Idebenone may help maintain respiratory function in DMD

Santhera Pharmaceuticals announced May 9, 2011, that its drug Catena (generic name idebenone) appears to slow the decline in respiratory function associated with aging in people with Duchenne muscular dystrophy (DMD). Idebenone may improve energy production in muscle and nerve cells.

Research Briefs: CMT, IBM, LGMD, MTM/CNM, Pompe disease

Charcot-Marie-Tooth disease

A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment) is testing ascorbic acid in CMT1A at a dosage of 4 grams per day for two years.

Research Briefs: CMS, DMD, LGMD, Pompe, Stem Cells

Congenital myasthenic syndromes

A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).

Research Briefs: CMT, CMS, DMD/BMD, FA, Pompe disease, SBMA

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