Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-11-01

Study Completion Date

2023-09-01

Brief Summary

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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

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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.

Conditions

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Pompe Disease

Keywords

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frequency, MARTINIQUE observational study myalgia reference center for rare diseases

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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

Minimum Eligible Age

6 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHU de Martinique

Fort-de-France, , Martinique

Site Status RECRUITING

Countries

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Martinique

Central Contacts

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Cédric Contaret

Role: CONTACT

Phone: +596 596 552411

Email: [email protected]

Facility Contacts

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Sophie DUCLOS, MD

Role: primary

References

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Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W, Schoser B. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.

Reference Type BACKGROUND

PMID: 27170567 (View on PubMed)

Taisne N, Desnuelle C, Juntas Morales R, Ferrer Monasterio X, Sacconi S, Duval F, Sole G, Flipo RM, Lacour A, Vermersch P, Cardon T. Bent spine syndrome as the initial symptom of late-onset Pompe disease. Muscle Nerve. 2017 Jul;56(1):167-170. doi: 10.1002/mus.25478. Epub 2016 Nov 30.