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

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05092230

Acronym

POEM

Enrollment

100

Registered

2021-10-25

Start date

2021-11-01

Completion date

2023-09-01

Last updated

2021-10-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe Disease

Keywords

frequency,, MARTINIQUE, observational study, myalgia, reference center for rare diseases

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

6 Years to 80 Years

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
Cardiological check-up	2 years	\- ECG : QRS Complex and short PR space (milliseconde)
Muscle testing	2 years	\- Muscle Testing using Medical Research Counsil scale (MRC scale, total score ranging from 0 to 5)
Respiratory check-up	2 years	\- Chest radiography (non mesurable)
Genetic counselling activity	2 years	\- Genetic counseling appointment (non mesurable)

Other

Measure	Time frame	Description
Cardiological check-up	2 years	echocardiogram (FEVG, measurement of cardiac walls in mm)
Genetic counselling activity	2 years	\- Biological sampling of relatives (non mesurable)
Respiratory check-up	2 years	\- Blood gas : Pa O2 (mmHg) Pa CO2 (mmHg), pH

Countries

Martinique

Contacts

Primary ContactCédric Contaret

cedric.contaret@chu-martinique.fr+596 596 552411

Outcome results