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 and 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, Glycogen Storage Disease Type 9, Hypophosphatasia (HPP), and Splenectomy. Dr. Kishnani is currently accepting new patients.
CHOC Clinic
Raymond Wang is a Pediatrics specialist and a Medical Genetics provider in Orange, California. Dr. Wang and 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), and Pompe Disease.
Barry Byrne is a Pediatric Cardiologist and a Pediatrics provider in Gainesville, Florida. Dr. Byrne and is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Barth Syndrome, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Bone Marrow Aspiration. Dr. Byrne is currently accepting new patients in some locations.
Summary: Twenty patients with centronuclear myopathy and twenty age- and sex-matched, muscle-healthy controls will undergo diagnostic examination. Study participants will undergo physical examination, clinical and functional testing, and multispectral optoacoustic tomography (MSOT) scanning at predefined muscle sites (paraspinal muscles, trapezius muscle, deltoid muscle, forearm flexors, quadriceps muscle,...
Summary: Study ABX1100-1001 is a first-in-human (FIH), phase 1 study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of a single ascending dose (SAD) and multiple doses (MD) of ABX1100 administered intravenously to healthy participants and patients with LOPD. * Part A features a SAD study with a double-blind, placebo-controlled, randomized design in NHVs involving 3 cohorts (A1-A3...
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.