Pompe disease


Also found in: Medical.

Pompe disease

[′pämp di‚zēz]
(medicine)
A hereditary glycogen storage disease in humans arising from deficiency of a lysosomal enzyme and characterized by weakness, enlargement of the heart and cardiac failure, enlargement of the tongue, and moderate enlargement of the liver.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Complete enrollment in pivotal Phase 3 PROPEL clinical study in Pompe disease and report additional Phase 2 data.
The company intends to use the net proceeds from the offering, in addition to its existing cash resources, to fund the support of the company's current programs in Fabry disease, Gaucher disease, cystinosis and Pompe disease, fund external and internal manufacturing and process development activities related to the company's programmes and to fund research and development activities that relate to all of the company's clinical and preclinical activities, including the cost of research and development personnel, and the remainder for planned general and administrative expenses, working capital and other general corporate purposes.
Net proceeds from the offering, along with existing cash resources, may be used by the company to fund the support of its current programmes in Fabry disease, Gaucher disease, cystinosis and Pompe disease, fund external and internal manufacturing, fund process development and research and development activities, planned general and administrative expenses, working capital as well as other general corporate purposes.
Initially thought to be a muscle disorder, it took six years and a trip to the United States to confirm that Dickoy has Pompe disease, a metabolic disorder that over time would deteriorate his muscles and nerve cells.
With the success of the global Galafold launch and long-term opportunity in Fabry, our leadership position in Pompe disease with a late-stage Phase 3 program and now positive preclinical data in gene therapy, and a rapidly advancing gene therapy pipeline that includes two clinical-stage programs in Batten disease, we are marching closer toward our vision to treat 5,000+ patients and achieve $1B+ in revenue by 2023.
Niazullah and Sadia Tasneem, on the effectiveness of using computational tools in variants classification of patients with Pompe disease, an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body.
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: Consensus recommendations from an expert group.
Amicus Therapeutics entered into a joint venture with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania to pursue research and development of novel gene therapies for Pompe disease, Fabry disease, CDKL5 deficiency and one additional undisclosed rare metabolic disorder.Amicus Therapeutics entered into a joint venture with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania to pursue research and development of novel gene therapies for Pompe disease, Fabry disease, CDKL5 deficiency and one additional undisclosed rare metabolic disorder.
The authors also called for an investment of $21.9 million for the Health Resources and Services Administration's heritable disorders programming, which includes screening for dangerous conditions, including Pompe disease.
Caelan, who has infantile Pompe disease - a genetic muscle weakness condition - recently underwent an operation to have a ventilator fitted to help him to breathe.
Video footage, taken by mum Toni Bluck, shows Caelan, who has infantile Pompe disease - a genetic muscle weakness condition - joining in with the movements from his bed.