Pompe disease is a rare and often fatal muscle disease caused by an inherited deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen within cells. Pompe disease ranges from a rapidly fatal infantile-onset form with severe cardiac involvement to a more slowly progressive late-onset form primarily affecting skeletal muscle. There is currently no therapeutic treatment available for the disease, which affects an estimated 5,000-10,000 people worldwide.
ZyStor Therapeutics, Inc., a biotechnology company developing a new class of targeted protein therapeutics for the treatment of Lysosomal Storage Diseases using the Company's proprietary Glycosylation Independent Lysosomal Targeting technology, today announced that it has received clearance from the U. S. Food and Drug Administration to proceed into a clinical trial for its first drug candidate, ZC-701, an enzyme replacement therapy for the treatment of Pompe disease.
The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.
Amicus Therapeutics today announced it plans to initiate a Phase 1 study of AT2220 (1-deoxynojirimycin HCl), its investigational drug in development for the treatment of Pompe Disease.
Brain may win out over brawn as the primary cause of breathing problems in children with a severe form of muscular dystrophy known as Pompe disease.
By targeting a site in a mouse brain well connected to other areas, researchers successfully delivered a beneficial gene to the entire brain - after one injection of gene therapy.
Genzyme Corp. has announced that it has received approval to market Elaprase (idursulfase) in Japan for the treatment of Hunter syndrome.
Genzyme Corp. has announced the publication of a new study in The Proceedings of the National Academy of Sciences describing a novel preclinical gene therapy approach for treating Niemann-Pick disease.
A new way of delivering corrective genes with a single injection into a vein holds promise for long-lasting treatments of hereditary diseases of the heart, University of Florida researchers report.
The Food and Drug Administration in the U.S. has given approval for the first drug to treat a rare, debilitating muscle disease that can kill infants within a year.
Genzyme Corp. announced today that the European Medicines Agency (EMEA) has accepted its marketing authorization application for Myozyme(R) (alglucosidase alfa), an investigational enzyme replacement therapy for Pompe disease.
Three studies in acid maltase deficiency (AMD, or Pompe’s disease) being conducted by Genzyme of Cambridge, Mass., with support from MDA, are progressing on schedule, the company says.
The technique, described in the current issue of Molecular Therapy, could eventually lead to a method to correct genetic conditions in humans that cause diaphragm weakness and respiratory failure -- a leading cause of death in tens of thousands of patients with forms of muscular dystrophy, including Pompe’s disease. Thousands of Americans with muscle-weakening diseases are placed on ventilators each year, according to the Muscular Dystrophy Association.