Pompe.org.uk
Title
Pompe's Disease Page
Description
What is the Pompe's Group?
The Pompe's Group are a group of patients with Pompe's disease (acid maltase deficiency, glycogen storage disease type II), or parents of affected children. We are organised as a distinct grouping with the Association for Glycogen Storage Disease (UK), a wider grouping which takes in all of the glycogen storage diseases. Since 1994, we have had our own distinct workshop at the annual AGSD conference, which has steadily grown and developed a distinct international flavour.
The Pompe's Group have a place on the AGSD executive and also helped found the International Pompe Association, of which we are the UK part.
What do the Pompe's Group do?
The group organises a Pompe's session at the annual AGSD conference. This has allowed us to hear first hand accounts of the clinical trials of enzyme replacement therapy and to quiz senior representatives of the companies involved. It also provides an occasion for people to meet each other and realise that they are not, after all, the only person in the world with this rare disease!
Additional Information
Related Domains
- Acid Maltase Deficiency
- Brain Diseases
- Conditions And Diseases
- Enzyme Replacement Therapy
- Europe
- Genetic Disease
- Glycogen Storage Disease
- Glycogen Storage Disease Type Ii
- Glycogenosis
- Health
- Inborn Errors Of Metabolism
- Lysosomal Storage Disease
- Neurological Disorders
- Pompe's Disease
- Pompe Disease
- United Kingdom
- Conditions and Diseases
- Glycogen Storage Disease Type II
- Regional