Pompe Disease News and Research

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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.
FDA approves ZyStor Therapeutics' ZC-701 for Phase I human safety trial

FDA approves ZyStor Therapeutics' ZC-701 for Phase I human safety trial

Research to explore diagnosis and treatment of rare diseases

Research to explore diagnosis and treatment of rare diseases

Amicus Therapeutics to initiate Phase 1 study of AT2220

Amicus Therapeutics to initiate Phase 1 study of AT2220

Nervous system may be culprit in Pompe disease

Nervous system may be culprit in Pompe disease

One injection of gene therapy spreads through brain in animal study

One injection of gene therapy spreads through brain in animal study

Genzyme receives Japanese marketing approval for Elaprase

Genzyme receives Japanese marketing approval for Elaprase

Novel preclinical gene therapy approach for treating Niemann-Pick disease

Novel preclinical gene therapy approach for treating Niemann-Pick disease

New way of delivering corrective genes holds promise for hereditary diseases of the heart

New way of delivering corrective genes holds promise for hereditary diseases of the heart

New drug to treat rare Pompe disease gets FDA approval

New drug to treat rare Pompe disease gets FDA approval

Genzyme files for European approval of Myozyme for treatment of Pompe disease

Genzyme files for European approval of Myozyme for treatment of Pompe disease

Three studies in acid maltase deficiency or Pompe’s disease are progressing on schedule

Three studies in acid maltase deficiency or Pompe’s disease are progressing on schedule

University of Florida researchers have used a common gel to successfully deliver gene therapy to the diaphragm

University of Florida researchers have used a common gel to successfully deliver gene therapy to the diaphragm