Research Briefs: DMD, BMD, CMD, SMA

News about research in Duchenne, Becker and congenital muscular dystrophies, and spinal muscular atrophy

by Margaret Wahl on December 9, 2010 - 9:04am

Duchenne and Becker muscular dystrophies

PTC Therapeutics says it will provide its experimental drug ataluren to those who participated in its ataluren trials conducted in the United States. Ataluren, which has not yet been approved by the U.S. Food and Drug Administration, is designed to treat Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) caused by a “nonsense mutation” in the dystrohpin gene. Former trial participants should contact Diane Goetz, director of patient and professional advocacy at PTC, at For background on ataluren, see Low-Dose Ataluren Shows Some Benefit in DMD/BMD.

GlaxoSmithKline now has two ongoing trials and one slated to open soon for its experimental drug GSK2402968, designed to skip exon 51 of the dystrophin gene and restore production of functional dystrophin for those with mutations in and near this exon. One trial, a phase 1 study in nonwalking boys with DMD with specific mutations, is taking place in Columbus, Ohio. Another, a phase 2 trial in walking boys with DMD with specific dystrophin mutations, is taking place in Europe. A third, a phase 3 trial for walking boys with DMD with specific mutations, is slated to open in Europe and Korea in the near future. For background on GSK2402968, see First US Exon-Skipping Trial Opens and Progress in Exon Skipping for DMD.

Dongsheng Duan, a professor in the Department of Molecular Microbiology & Immunology at the University of Missouri-Columbia, has received a $2.1 million grant from the National Institutes of Health to develop a treatment for the cardiac aspects of DMD and BMD. Duan, an experienced gene therapy researcher who has a current research grant from MDA, hopes to develop a gene that will treat both cardiac and skeletal muscles in these diseases. See Getting to the Heart of Muscular Dystrophy.

Congenital muscular dystrophies

Santhera Pharmaceuticals announced Dec. 7, 2010, that it hopes to begin a clinical trial in late 2011 to test its experimental drug omigapil in type 1A congenital muscular dystrophy (CMD1A), a disease caused by a deficiency of the laminin alpha-2 protein. Santhera has received a European patent for use of this drug as a treatment, should it be approved for that use. The drug is designed to prevent excessive cell death. See Santhera Obtains European Patent for Use of Omigapil for the Treatment of Congenital Muscular Dystrophy.

A consensus statement on a standard of care for congenital muscular dystrophy (CMD) has been developed by a multinational team of experts in the field, several of whom have been MDA research grantees or clinic directors. Aimed at physicians, the statement addresses diagnosis, neurology, pulmonology, orthpedics/rehabilitation, gastoenterology/nutrition, speech/oral care, cardiology and palliative care in this group of diseases. Access to the full report in the Journal of Child Neurology is available for $32 at SAGE Journals Online.

Spinal muscular atrophy

California Stem Cell announced Dec. 1, 2010, that it has filed an investigational new drug (IND) application with the U.S. Food and Drug Administration for approval to begin a phase 1 safety study involving transplantation of stem-cell-derived motor neurons into individuals with type 1 spinal muscular atrophy (SMA1). See California Stem Cell, Inc., Files IND to Commence Phase 1 Clinical Trial in Spinal Muscular Atrophy.

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