NCT03564561Recruiting
Natural History of Pompe Disease
Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study
Source: ClinicalTrials.gov · Last updated 8 Apr 2024 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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 alternative splicing in Pompe patients with c.-32-13T\>G mutations. * To determine effectiveness of antisense oligonucleotide chemistries to restore full length GAA transcripts, GAA protein and GAA enzyme activity in fibroblasts and myoblasts obtained from skin and muscle biopsies as well as leucocytes of Pompe patients with c.-32-13T\>G mutations.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 20 (estimated)
- First submitted
- 27 Mar 2018
- Start date
- 7 Jun 2019
- Primary completion date
- Mar 2033
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Diseases
- Pompe disease
- NCT number
- NCT03564561
What you commit to
- Study type: Observational
- Planned participants: 20
- From 7 Jun 2019 to the primary completion date, Mar 2033
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Presence of comorbidity, in particular preexisting diseases like chronic infectious diseases (VIH infection, hepatitis or others), asthma, malignant tumour, hematologic diseases
Other
- Invasive mechanical ventilation
- Pregnant woman
- Patient who participate in another clinical trial
- Life expectancy \< 12 months
- Unable to understand instructions and restraints of the study
Who the study is looking for
- 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.
Age in the registry: 18 years to 80 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hôpital Raymond-Poincaré Coordinator of this site? Confirm its status | Garches | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.