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

  • STATUS
    Recruiting
  • End date
    Sep 1, 2023
  • participants needed
    100
  • sponsor
    University Hospital Center of Martinique
Updated on 3 November 2021
deficiency
replacement therapy

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 IdentifierNCT05092230
SponsorUniversity Hospital Center of Martinique
Last Modified on3 November 2021

Eligibility

Yes No Not Sure

Inclusion Criteria

both sexes
with permanent myalgia, spontaneous or on effort
with or without muscle deficit
with or without HyperCkemia
without known etiologies
Age from 6 to 80 years
consulting for the first time or followed at CERCA
giving their free and informed consent to participate after information on the research
Affiliated to the social security system

Exclusion Criteria

Person placed under guardianship and/or curatorship
Myalgias related to a known etiology
Clear my responses

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