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

Last updated: October 28, 2021
Sponsor: University Hospital Center of Martinique
Overall Status: Active - Recruiting

Phase

N/A

Condition

Pompe Disease

Muscle Pain

Treatment

N/A

Clinical Study ID

NCT05092230
POEM
  • Ages 6-80
  • All Genders

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

Eligibility Criteria

Inclusion

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 theresearch
  • Affiliated to the social security system

Exclusion

Exclusion Criteria:

  • Person placed under guardianship and/or curatorship
  • Myalgias related to a known etiology

Study Design

Total Participants: 100
Study Start date:
November 01, 2021
Estimated Completion Date:
September 01, 2023

Study 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.

Connect with a study center

  • CHU de Martinique

    Fort-de-France,
    Martinique

    Active - Recruiting

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