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

Study Overview
=================
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.

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

Conditions
-----------------
Pompe Disease

Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 6 Years
Maximum Age: 80 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------
What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Primary outcome measure | 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. | 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 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Muscle testing | - Muscle Testing using Medical Research Counsil scale (MRC scale, total score ranging from 0 to 5) | 2 years | 
| Cardiological check-up | - ECG : QRS Complex and short PR space (milliseconde) | 2 years | 
| Respiratory check-up | - Chest radiography (non mesurable) | 2 years | 
| Genetic counselling activity | - Genetic counseling appointment (non mesurable) | 2 years | 
| Muscle testing | - 6-minute walk test (number of metres in 6 minutes) | 2 years | 
| Muscle testing | motor function scale (french  MFM ) (32 items rated on a 4-point Likert scale) | 2 years | 
| Muscle testing | ElectroNeuroMyogram (ENMG) with measurement of nerve conduction velocities (m/s) | 2 years | 
| Cardiological check-up | - Holter-ECG during 24h : heart rhythm abnormality (beat per minute) | 2 years | 
| Cardiological check-up | Measurement of Brain Natriuretic Peptid (BNP) (ng/L) | 2 years | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
frequency,, MARTINIQUE, observational study, myalgia, reference center for rare diseases