Acid Maltase Deficiency (AMD)

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).

Study Seeks People With Uncertain MD Diagnoses

A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.

Lumizyme Now Commercially Available for Pompe

 Monique Griffin of Orlando, Fla., was one of the first in the nation to receive the commercially available treatment Lumizyme for acid maltase deficiency (AMD, or Pompe disease).

Pompe Disease: FDA Approves Lumizyme

The U.S. Food and Drug Administration (FDA) has approved U.S. sales of the enzyme-replacement drug Lumizyme, the first treatment in the U.S. specifically for late-onset Pompe disease.

Lumizyme on the Horizon

Biotechnology company Genzyme, of Cambridge, Mass., expects the U.S. Food and Drug Administration (FDA) to rule by June 17, 2010, on Genzyme's application to market its laboratory-developed enzyme Lumizyme (alglucosidase alfa) in the United States.

Lumizyme and its near-twin, Myozyme, replace the acid maltase enzyme deficient in people with Pompe disease (acid alpha-glucosidase deficiency or acid maltase deficiency)

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