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

• Conditions: Pompe Disease

• Registration Number: NCT05092230
• Lead Sponsor: University Hospital Center of Martinique

Brief 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.

Study Timeline

• Study First Submitted: 2021-08-23
• Status Verified: 2021-10
• Study First Submitted QC: 2021-10-22
• Study First Posted: 2021-10-25
• Last Update Submitted: 2021-10-28
• Last Update Posted: 2021-10-29
• Study Start: 2021-11-01
• Primary Completion: 2023-09-01
• Study Completion: 2023-09-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Primary outcome measure	The recruitment will take place in our specialized center for the management and follow-up of patients with neuromuscular pathology. A total of 100 patients are likely to be included in the study during the years 2020-2022	To estimate the frequency of Pompe's disease in men and women with permanent, spontaneous or exertional myalgia consulting for the first time or followed in our center. This criterion will be evaluated by biochemical and genetic analyses. Improvement of diagnostic deficiency and genetic counseling is envisaged. A discussion could be opened for these patients regarding the application of enzyme replacement therapy.

Secondary Outcome Measures

Name	Time	Method
Respiratory check-up	2 years	- Chest radiography (non mesurable)
Muscle testing	2 years	ElectroNeuroMyogram (ENMG) with measurement of nerve conduction velocities (m/s)
Cardiological check-up	2 years	Measurement of Brain Natriuretic Peptid (BNP) (ng/L)
Genetic counselling activity	2 years	- Genetic counseling appointment (non mesurable)

Trial Locations

Locations (1)

CHU de Martinique; 🇲🇶 Fort-de-France, Martinique