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

NCT05092230 | Unknown

• 1 other identifier: POEM
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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

Conditions

Pompe Disease

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (9)

• Muscle testing

  2 years

• Cardiological check-up

  2 years

• Respiratory check-up

  2 years

• Genetic counselling activity

  2 years

• Muscle testing

  2 years

Other Outcomes (8)

• Respiratory check-up

  2 years

• Respiratory check-up

  2 years

• Respiratory check-up

  2 years

Eligibility Criteria

• Age: 6 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patient 6 to 80 years of age or consulting for the first time or followed at CERCA Martinique with permanent myalgia, spontaneous or on effort,

You may qualify if:

• 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

You may not qualify if:

• Person placed under guardianship and/or curatorship
• Myalgias related to a known etiology

Sponsors & Collaborators

• University Hospital Center of Martinique: lead

Study Sites (1)

CHU de Martinique

Fort-de-France, Martinique

RECRUITING

Related Publications (2)

• 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.

  PMID: 27170567 BACKGROUND

• 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.

  PMID: 27862019 BACKGROUND

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Myalgia

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Musculoskeletal Pain; Pain; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Cédric Contaret

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 23, 2021
• First Posted: October 25, 2021
• Study Start: November 1, 2021
• Primary Completion: September 1, 2023
• Study Completion: September 1, 2023
• Last Updated: October 29, 2021

Record last verified: 2021-10

Data Sharing

• IPD Sharing: Will not share

Locations

MA (1)