Pompe Disease

What is Pompe Disease?
Glycogen Storage Disease Type 2, or Pompe Disease, is a rare, inherited, and often fatal disorder that disables the heart and skeletal muscles. More information about Pompe Disease may be found on the NIH’s website: https://www.ninds.nih.gov/health-information/disorders/pompe-disease#:~:text=Pompe%20disease%20is%20a%20rare,alpha%2Dglucosidase%20(GAA). 

What is the prevalence of Pompe Disease?
Pompe Disease occurs at an estimated incidence of 1 in every 40,000 births. 

How is Pompe Disease diagnosed?
A diagnosis of Pompe Disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample.  Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended.  Carriers are most reliably identified via genetic mutation analysis.

Is there any specific gene/pathway in Pompe Disease that has been identified?
Pompe Disease is caused by a loss-of-function mutation in the acid alpha-glucosidase enzyme leading to the buildup of a complex sugar called glycogen in the body's cells. In certain organs and tissues, especially muscles, this impairs their normal function leading to organ impairment and eventual failure. 

How is Pompe Disease treated?
There is currently no cure for Pompe Disease. Treatment is centered around enzyme replacement and supportive and symptomatic care. More information on treatment may be found here: https://rarediseases.org/rare-diseases/pompe-disease/ 

Are there any clinical trials underway for Pompe Disease?
The National Institutes of Health (NIH) has completed 57 clinical trials for Pompe Disease. Currently, there are 59 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=pompe&Search=Apply&recrs=h&recrs=e&recrs=i&age_v=&gndr=&type=&rslt= 

How can RareShare be helpful to Pompe Disease patients and families?
The Pompe Disease community has 5 members. There is currently 1 active discussion underway. New discussions can help to connect patients, health workers, caregivers and families interested in Pompe Disease and provide them continual access to community resources.