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J.C., 20th-century Dutch physician. See: Pompe disease.
References in periodicals archive ?
They want all babies to get a routine blood test for Pompe disease at the same time as other conditions such as Cystic Fibrosis.
Genzyme, is currently conducting two clinical trials to evaluate the use of the rhGAA enzyme to treat infantile-onset Pompe disease.
The Children's Pompe Foundation, a not-for-profit foundation established in 1998 by the Crowleys and other parents, relatives, and friends of children with Pompe's disease, is dedicated to funding research and meeting the needs of children with Pompe's disease.
For Lynn, who was diagnosed with Pompe after developing a limp, it is particularly frustrating as she was refused the drug from NHS Ayrshire and Arran last year, and lost her appeal.
Although a definitive treatment for Pompe disease is currently unavailable, two main strategies are being proposed: (a) enzyme-replacement therapy, which has shown promising results in animal studies (7-9), is currently undergoing Phase II clinical trial in Pompe patients (10); and (b) gene transfer of the [alpha]-glucosidase gene with viral vectors is being pursued, with successful correction of several cell types in vitro being reported (11-14).
Pompe Disease Therapeutics under Development by Companies
Having recently demonstrated in vivo proof of concept for our Pompe candidate, which is expected to be at least 5X more effective than current therapies due to better targeted delivery, we will now be working toward initiating clinical studies during 2014.
Contact: ISL Online Team Ms Jerneja Fidler Pompe Public Relations XLAB d.
Pompe disease, or glycogen storage disease type II, is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of lysosomal acid [alpha]-glucosidase.
The report provides an in-depth analysis of major orphan genetic disease indications, covering Cystic Fibrosis (CF), Duchenne Muscular Dystrophy (DMD), Fabry disease and Pompe disease.