Natural History of Pompe Disease

Plain-language summary

This observational study examines the natural history (how the disease progresses over time) of Pompe disease. It includes ambulatory patients aged 18-80 who carry the c.-32-13T>G mutation in at least one allele of the GAA gene. It is a non-phase study that is currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Assistance Publique - Hôpitaux de Paris

Start date

6/7/2019

Estimated completion

3/1/2033

Countries

France

Related genes

Locations

• Garches, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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 Criteria:

* Invasive mechanical ventilation
* Pregnant woman
* Presence of comorbidity, in particular preexisting diseases like chronic infectious diseases (VIH infection, hepatitis or others), asthma, malignant tumour, hematologic diseases
* Patient who participate in another clinical trial
* Life expectancy \< 12 months
* Unable to understand instructions and restraints of the study