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

University Hospital Center of Martinique100 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

100

Conditions

Pompe Disease

Eligibility

Sex: ALLMin age: 6 YearsMax age: 80 Years

Medical Language ↔ Plain English

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

Locations (1)

Outcomes

Primary Outcomes

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.

Time frame: 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 Outcomes

Muscle testing

\- Muscle Testing using Medical Research Counsil scale (MRC scale, total score ranging from 0 to 5)

Time frame: 2 years

Cardiological check-up

\- ECG : QRS Complex and short PR space (milliseconde)

Time frame: 2 years

Respiratory check-up

\- Chest radiography (non mesurable)

Time frame: 2 years

Genetic counselling activity

\- Genetic counseling appointment (non mesurable)

Time frame: 2 years

Muscle testing

\- 6-minute walk test (number of metres in 6 minutes)

Time frame: 2 years

Muscle testing

motor function scale (french " MFM ") (32 items rated on a 4-point Likert scale)

Time frame: 2 years

Muscle testing

ElectroNeuroMyogram (ENMG) with measurement of nerve conduction velocities (m/s)

Time frame: 2 years

Cardiological check-up

\- Holter-ECG during 24h : heart rhythm abnormality (beat per minute)

Time frame: 2 years

Cardiological check-up

Measurement of Brain Natriuretic Peptid (BNP) (ng/L)

Time frame: 2 years

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

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts