Observing the natural progression of adult Pompe disease
Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study
This study is tracking adults with Pompe disease to see how the condition progresses over two years and to test if a new treatment can help improve their symptoms.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Garches, Hauts-de-Seine) |
| Trial ID | NCT03564561 on ClinicalTrials.gov |
What this trial studies
This observational study follows patients with adult-onset Pompe disease who have a specific mutation in the GAA gene over a two-year period. The study aims to describe the natural history of the disease using various clinical, imaging, histological, and molecular parameters. Patients will undergo a series of assessments at multiple visits to gather data on respiratory and motor function, as well as to identify potential biomarkers for future therapies. The study also explores the effectiveness of antisense oligonucleotide treatments in restoring normal GAA function.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18 to 80 with the c.-32-13T>G mutation in the GAA gene who can walk at least 50 meters.
Not a fit: Patients requiring invasive mechanical ventilation or with significant comorbidities may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of adult Pompe disease, potentially improving patient outcomes.
How similar studies have performed: While this study focuses on a specific mutation and its natural history, similar observational studies have shown promise in understanding genetic diseases and their progression.
Eligibility criteria
Show full inclusion / exclusion 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 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
Where this trial is running
Garches, Hauts-de-Seine
- Hôpital Raymond Poincaré — Garches, Hauts-de-Seine, France (Recruiting)
Study contacts
- Principal investigator: Helge Amthor, MD, PhD — Hôpital Raymond Poincaré
- Study coordinator: Helge Amthor, MD, PhD
- Email: helge.amthor@aphp.fr
- Phone: + 33 1 47 10 78 90
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.