Natural History of Pompe Disease
Recruiting
Observational Study
Glycogen Storage Disease Type II, Adult
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 – 80
- Sex
- Any
- Study type
- Observational
- Participants needed
- 20 (estimated)
- Sponsor
- Assistance Publique - Hôpitaux de Paris · Other
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
The project is a prospective study in which patients affected by adult-onset Pompe disease with c.-32-13T\>G mutation in the GAA gene will be followed-up during two years to describe the natural history using clinical, imaging, histological and molecular parameters.
Secondary objectives are:
* To identify biomarkers for assessing efficacy of future therapies based on correcting aberrant alternat…
Trial Locations
Loading…
Loading trial locations…
Eligibility Criteria
Inclusion Criteria:
* Pompe disease Patient with c.-32-13T\>G mutation in at least one allele of GAA gene.
* Ambulating patient : six-minute walk test distance \> 50 m.
* Patient aged between 18 and 80 years.
* Informed consent signed par patient.
* Patient covered by a health insurance.
Exclusion…
Contacts