Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)
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- STATUS
- Recruiting
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- End date
- Sep 1, 2023
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- participants needed
- 100
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- sponsor
- University Hospital Center of Martinique
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
Description
Patients include: clinical examination, enzyme activity assay, muscle testing, cardiological and respiratory workup. Lowered enzyme activity suggests a pathogenic genetic variant to be identified. The secondary objective is to propose genetic counselling and a family investigation in order to identify relatives who are also affected.
Details
| Condition | Pompe Disease, Glycogen storage disease type II |
|---|---|
| Clinical Study Identifier | NCT05092230 |
| Sponsor | University Hospital Center of Martinique |
| Last Modified on | 3 November 2021 |
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