RECRUITINGOBSERVATIONAL

Natural History of Pompe Disease

Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - 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. - willing to sign a consent form signed par patient. - Patient covered by a health insurance. Who Should NOT Join This Trial: - 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 Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

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

Locations (1)

Hôpital Raymond Poincaré

Garches, Hauts-de-Seine, France