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