Amicus Therapeutics Seeks Participants for Observational Pompe Disease Study

Researchers at Amicus Therapeutics are looking for participants with late-onset Pompe disease who are being treated with enzyme replacement therapy (ERT) to participate in an observational study. The study is designed to help researchers evaluate the change in muscle function and respiratory endpoints over approximately nine to 12 months. During that time, participants will have . . .

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MDA Grants Work to Find Breakthroughs Across Diseases

Since its inception, MDA has invested more than $1 billion in neuromuscular disease research to uncover new treatments and cures. In 2016 alone, MDA awarded 66 new research, development and research infrastructure grants with a total funding commitment of more than $17 million. These and other MDA grants fund research projects designed to uncover the . . .

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BioMarin Discontinues Development of Pompe Drug  

  BioMarin Pharmaceutical has announced that it is discontinuing development of BMN 701, an enzyme replacement therapy (ERT) for the treatment of Pompe disease (acid maltase deficiency, or AMD). In Pompe, a deficiency of an enzyme called acid alpha-glucosidase helps break down sugar stored in cells (glycogen). Without this enzyme, glycogen accumulates in cells and . . .

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Improving Newborn Screening for Neuromuscular Disorders

MDA recognizes the importance of early diagnosis for neuromuscular disorders to optimize opportunities for effective treatment. This includes supporting initiatives to understand the impact of newborn screening in neuromuscular disorders. In early March, MDA sponsored an international conference in St. Louis, MO, “Newborn Screening for Neuromuscular Diseases: Improving Patient Outcomes and Evaluating Public Health Impact,” that . . .

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