Pompe Disease (Acid Maltase Deficiency)

Survey Examines Newborn Screening for Neuromuscular Disease

MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.

AMD — Dwight Koeberl, M.D., Ph.D.

MDA awarded a research grant totaling $253,812 over two years to Dwight Koeberl, associate professor in the department of pediatrics at Duke University Medical Center in Durham, N.C. The funds will help support Koeberl’s research on the development of gene therapy for acid maltase deficiency (AMD, or Pompe disease).

Research Briefs: Metabolic Muscle Diseases

New research mouse mimics McArdle disease

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.

Trial Opens of 'Pharmacological Chaperone' in Pompe Disease

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