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Natural History of Pompe Disease

Recruitingn/aAges 18 Years - 80 YearsAllAssistance Publique - Hôpitaux de Paris
NCT03564561 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
Hôpital Raymond Poincaré
Garches, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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