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Glycogen Storage Disease Type II, Adult

Tundra lists 1 Glycogen Storage Disease Type II, Adult clinical trial. Each listing includes eligibility criteria, study locations, and direct links to research sites in the Tundra directory.

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RECRUITING

NCT03564561

Natural History of Pompe Disease

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.

Gender: All

Ages: 18 Years - 80 Years

Updated: 2024-04-08

1 state

Glycogen Storage Disease Type II, Adult