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

University Hospital Center of Martinique

Status: Unknown

Conditions: Pompe Disease

Study type: Observational

Funder types: Other

Identifiers

NCT05092230

POEM (Other Identifier)

Details and patient eligibility

About

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

Full 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.

Enrollment: 100 estimated patients

Sex: All

Ages: 6 to 80 years old

Volunteers: No Healthy Volunteers

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