MedTrace Logo

Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)

NCT05092230 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2021-10-29

No results posted yet for this study

Summary

Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all cells but with a more marked expression in muscle cells. There is a great variability in the clinical manifestations and in the age of onset of symptoms depending on whether the enzyme deficiency is partial or total. The prevalence is estimated at 1 in 40,000. There is a specific treatment based on enzyme replacement therapy

Conditions

  • Pompe Disease

Sponsors & Collaborators

  • University Hospital Center of Martinique

    lead OTHER

Eligibility

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

Timeline & Regulatory

Start
2021-11-01
Primary Completion
2023-09-01
Completion
2023-09-01

Countries

  • Martinique

Study Locations

More Related Trials

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 NCT05092230 on ClinicalTrials.gov