Learn About Pompe Disease
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.
Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Duke Health Integrated Practice Inc
Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.
Duke University Hospital
Dwight Koeberl is a Medical Genetics specialist and a Pediatrics provider in Durham, North Carolina. Dr. Koeberl is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Propionic Acidemia. Dr. Koeberl is currently accepting new patients.
CHOC Clinic
Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.
Summary: The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and ...
Summary: The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
Published Date: February 01, 2016
Published By: National Institutes of Health
Pompe Alliance provides supportive services, education and information to patients, caregivers, medical professionals and community stakeholders involved with Pompe disease.