Actively Recruiting
Natural History of Pompe Disease
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2024-04-08
20
Participants Needed
1
Research Sites
716 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Natural History of Pompe Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Pompe disease patient with c.-32-13T>G mutation in at least one allele of GAA gene
- Ambulating patient able to walk more than 50 meters in six-minute walk test
- Patient aged between 18 and 80 years
- Signed informed consent by patient
- Patient covered by health insurance
You will not qualify if you...
- Using invasive mechanical ventilation
- Pregnant woman
- Presence of comorbidity such as chronic infectious diseases (HIV, hepatitis, or others), asthma, malignant tumors, or hematologic diseases
- Participation in another clinical trial
- Life expectancy less than 12 months
- Unable to understand study instructions and restrictions
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Hôpital Raymond Poincaré
Garches, Hauts-de-Seine, France, 92380
Actively Recruiting
Research Team
H
Helge Amthor, MD, PhD
CONTACT
P
Pascal Laforêt, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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