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

News briefs about research in Charcot-Marie-Tooth disease, hereditary inclusion-body myositis, limb-girdle muscular dystrophy, myotubular/centronuclear myopathies and Pompe disease

by Margaret Wahl on March 31, 2011 - 10:20am

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.

The paper and an editorial on the European trial are available free of charge at Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial and Ascorbic acid for treatment in CMT1A: what's next?, respectively.

Inclusion-body myositis — hereditary form

Ultragenyx Pharmaceutical is developing an experimental treatment for a form of hereditary inclusion-body myositis (hIBM), also known as inclusion-body myopathy, that's caused by mutations in the GNE gene. This gene codes for a protein that's needed to make sialic acid. The Ultragenyx product is an extended-release form of sialic acid.

For a slide presentation on the Ultragenyx product pipeline as of late 2010, see Ultragenyx: A New Biotechnology Startup Focused on Rare Genetic Disorders.

Limb-girdle muscular dystrophy

Scientists have found that a mutation in the gene for the muscle protein dystroglycan can cause limb-girdle muscular dystrophy (LGMD) with severe cognitive impairment. MD-causing mutations in the dystroglycan gene have not previously been identified, although mutations in several genes that affect dystroglycan are known to cause LGMD or congenital muscular dystrophy (CMD).

See A dystroglycan mutation associated with limb-girdle muscular dystrophy and UI Team Identifies New Form of Muscular Dystrophy.

Myotubular myopathy and other centronuclear myopathies

The 2011 MTM-CNM Family Conference sponsored by the Myotubular Myopathy Resource Group will take place July 29-31, 2011, in Minneapolis. The conference is designed to allow families affected by MTM or other forms of CNM to connect with physicians and researchers who have a special interest in these disorders.

For details and registration information, see 2011 MTM-CNM Family Conference.

Pompe disease

Amicus Therapeutics announced in March 2011 that the U.S. Food and Drug Administration has removed the hold it had previously placed on clinical testing of AT2220, an experimental treatment the company is developing for Pompe disease (acid maltase deficiency). In an upcoming phase 2 trial, AT2220 will not be given alone but will be given only in combination with enzyme replacement therapy.

See Amicus Therapeutics Announces FDA Agreement to Commence Phase 2 study of AT2220 Co-administered with Enzyme Replacement Therapy for Pompe Disease.

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