Research Briefs: BMD, DMD, Pompe disease

PTC begins non-US study of ataluren in DMD/BMD

MDA Commits $12 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.

Pompe - Eric Sjoberg, Ph.D.

MDA awarded a research grant totaling $186,372 over a period of two years to Eric Sjoberg, principal scientist at Amicus Therapeutics in La Jolla, Calif. The funds will help support Sjoberg's research into immune system response associated with enzyme replacement therapy (ERT), the only approved treatment for Pompe disease (acid maltase deficiency or AMD).

Pompe - Celine Baligand, Ph.D.

MDA awarded a development grant (DG) totaling $170,873 over three years to Celine Baligand, a postdoctoral associate at the University of Florida College of Medicine in Gainesville. The funds will help support Baligand's research into the use of various imaging techniques to help determine the natural progression of Pompe disease (acid maltase deficiency or AMD).

Pompe - Darin Falk, Ph.D.

Darin Falk, a postdoctoral fellow in the department of pediatrics at the University of Florida in Gainesville, has received an MDA development grant (DG) totaling $179,846 over three years. The funds will help support Falk's research into the potential for gene therapy as a treatment for Pompe disease (acid maltase deficiency or AMD).

Immunosuppression Induces Tolerance to Enzyme Treatment in Pompe Disease

Editor's note 2/2/12:This story was updated to reflect the award of a  new MDA grant to Eric Sjoberg at Amicus Therapeutics.

Drugs that suppress the immune system can successfully prevent or reverse rejection of enzyme replacement therapy in Pompe disease (acid maltase deficiency),a new study has shown.

Why Does It Take So Long To Go from Mouse to Man?

John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human clinical trials. Why does it take so long?

Trial Opens of 'Pharmacological Chaperone' in Pompe Disease

BioMarin Testing Drug in Late-Onset Pompe Disease

BioMarin Pharmaceutical is seeking participants for a clinical trial testing the safety and tolerability of its experimental drug BMN701 in adolescents and adults with late-onset Pompe disease (acid maltase deficiency). The trial is being conducted in California, Kansas and Florida.

Pages

MDA in Your Community