Following adults with Pompe disease to study how it progresses over time
Follows adults with Pompe disease who carry a specific GAA gene change.
Key facts
- Who runs it
- Assistance Publique - Hôpitaux de Paris
- Where
- Garches, FranceSee the site
- Trial code
- Registry title
- Natural History of Pompe Disease
- Status
- Recruiting
- People taking part
- 20 people, planned
- Started
- 7 Jun 2019
- Expected to end
- Mar 2033
- Type of study
- Observational
- Record updated
- 8 April 2024
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for adults with adult-onset Pompe disease who carry the c.-32-13T>G change in the GAA gene and can still walk. They are followed for two years.
- Age
- 18 to 80 years
- Sex
- All sexes can join
- Disease stage
- Adult-onset Pompe disease. People must be able to walk: six-minute walk test distance of more than 50 m.
- Biomarker or test result
- c.-32-13T>G mutation in at least one copy of the GAA gene
Main reasons for not taking part
- Invasive mechanical ventilation
- Pregnancy
- Other diseases such as chronic infections (HIV, hepatitis), asthma, cancer or blood diseases
- Taking part in another clinical trial
- Life expectancy under 12 months
The registry criteria, word for word
Show all 11 criteriaShow less
Who can take part
- 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
Who cannot take part
- Presence of comorbidity, in particular preexisting diseases like chronic infectious diseases (VIH infection, hepatitis or others), asthma, malignant tumour, hematologic diseases
- 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
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 18 and 80 years old?
Where in France
- Hôpital Raymond-PoincaréGarches, FranceContact: Helge Amthor, MD, PhDTaking people
About the trial
What the trial wants to find out
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.
Read full original descriptionShow less
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.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study
- Plain-language title
- Following adults with Pompe disease to study how it progresses over timeGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Fit questions
- Built from NCT03564561, who can take part
- Record updated
- 8 April 2024