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Natural History of Pompe Disease

NCT03564561 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2024-04-08

No results posted yet for this study

Summary

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.

Conditions

  • Glycogen Storage Disease Type II, Adult

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Helge Amthor, MD, PhD · Hôpital Raymond Poincaré

  • Pascal Laforêt, MD, PhD · Hôpital Raymond Poincaré

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-06-07
Primary Completion
2033-03-31
Completion
2033-03-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03564561 on ClinicalTrials.gov