Skip to Content

Join the 'Pompe disease' group to help and get support from people like you.

Pompe disease News

Newborn Screening Tests Approved

Posted 13 days ago by Drugs.com

MONDAY, Feb. 6, 2017 – A set of screening tests designed to detect four rare metabolic disorders in newborns has been approved by the U.S. Food and Drug Administration. The "Seeker" system of diagnostics is designed to screen for Mucopolysaccharidosis Type 1, Pompe, Gaucher and Fabry. These are the first tests approved to screen for the inherited disorders, which affect proteins that normally eliminate harmful substances from the body, the FDA said in a news release. The disorders occur in as few as 1 in 185,000 births, or as many as 1 in 1,500 births, depending on the disorder, the agency said. The conditions, collectively called Lysosomal Storage Disorders, could lead to organ damage and death if not treated in a timely way, the FDA added. Some states now require screening of these disorders, the agency said, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New ... Read more

Related support groups: Pompe disease, Diagnosis and Investigation, Gaucher Disease, Fabry Disease, Lysosomal Acid Lipase Deficiency, Mucopolysaccharidosis Type I, Cerebral Sphingolipidosis

FDA Expands Approval of Lumizyme to treat Pompe Disease Patients of All Ages

Posted 6 Aug 2014 by Drugs.com

August 1, 2014 – The U.S. Food and Drug Administration today announced the approval of Lumizyme (alglucosidase alfa) for treatment of patients with infantile-onset Pompe disease, including patients who are less than 8 years of age. In addition, the Risk Evaluation and Mitigation Strategy (REMS) known as the Lumizyme ACE (Alglucosidase Alfa Control and Education) Program is being eliminated. Pompe disease is a rare genetic disorder and occurs in an estimated 1 in every 40,000 to 300,000 births. Its primary symptom is heart and skeletal muscle weakness, progressing to respiratory weakness and death from respiratory failure. The disease causes gene mutations to prevent the body from making enough of the functional form of an enzyme called acid alpha-glucosidase (GAA). This enzyme is necessary for proper muscle functioning. GAA is used by the heart and muscle cells to convert a form of ... Read more

Related support groups: Pompe disease, Lumizyme, Alglucosidase Alfa

FDA Approves Lumizyme for Late-Onset Pompe Disease

Posted 28 May 2010 by Drugs.com

SILVER SPRING, Md., May 25 /PRNewswire-USNewswire/ – The U.S. Food and Drug Administration approved Lumizyme (alglucosidase alfa) for patients ages 8 years and older with late-onset (non-infantile) Pompe disease, a rare genetic disorder. Pompe disease occurs in an estimated 1 in every 40,000 to 300,000 births. Its primary symptom is heart and skeletal muscle weakness, progressing to respiratory weakness and death from respiratory failure. In Pompe disease, a gene mutation prevents the body from making an enzyme, or making enough of the enzyme called acid alpha-glucosidase (GAA), necessary for proper muscle functioning. GAA is used by the heart and muscle cells to convert a form of sugar called glycogen into energy. Without the enzyme action, glycogen builds up in the cells and, ultimately, weakens the heart and muscles. Lumizyme is believed to work by replacing the deficient GAA, ... Read more

Related support groups: Pompe disease

Ask a Question

Further Information

Related Condition Support Groups

Metabolic Disorder Including Congenital

Related Drug Support Groups

Lumizyme, Myozyme, alglucosidase alfa