NCT05092230

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

Frequency of Pompe Disease in Patients Followed at CERCA for Myalgia With or Without Hyper Ckemia

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: University Hospital Center of Martinique · Academic / Other
• Sex: All
• Age: 6 Years – 80 Years
• Healthy volunteers: Not accepted

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

Detailed 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.

Conditions

• Pompe Disease

Timeline

• Start date: 2021-11-01
• Primary completion: 2023-09-01
• Completion: 2023-09-01
• First posted: 2021-10-25
• Last updated: 2021-10-29

Locations

1 site across 1 country: Martinique