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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05092230
Other study ID # POEM
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date November 1, 2021
Est. completion date September 1, 2023

Study information

Verified date October 2021
Source University Hospital Center of Martinique
Contact Cédric Contaret
Phone +596 596 552411
Email cedric.contaret@chu-martinique.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 100
Est. completion date September 1, 2023
Est. primary completion date September 1, 2023
Accepts healthy volunteers No
Gender All
Age group 6 Years to 80 Years
Eligibility 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

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
Martinique CHU de Martinique Fort-de-France

Sponsors (1)

Lead Sponsor Collaborator
University Hospital Center of Martinique

Country where clinical trial is conducted

Martinique, 

References & 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, Müller-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. — View Citation

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. — View Citation

Outcome

Type Measure Description Time frame Safety issue
Other Respiratory check-up - Blood gas : Pa O2 (mmHg) Pa CO2 (mmHg), pH 2 years
Other Respiratory check-up Maximum Expiratory Volume in the 1st second during forced expiration, "VEMS"(L) 2 years
Other Respiratory check-up o Functional Vital Capacity, " CV " (L) 2 years
Other Respiratory check-up o percentage of FEV1 to vital capacity "VEMS%CV" 2 years
Other Respiratory check-up o Mean Expiratory Flow " DEM) (L/s) 2 years
Other Respiratory check-up - Polysomnography : index number of apneas per hour 2 years
Other Genetic counselling activity - Biological sampling of relatives (non mesurable) 2 years
Other Cardiological check-up echocardiogram (FEVG, measurement of cardiac walls in mm) 2 years
Primary 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 Muscle testing - Muscle Testing using Medical Research Counsil scale (MRC scale, total score ranging from 0 to 5) 2 years
Secondary Cardiological check-up - ECG : QRS Complex and short PR space (milliseconde) 2 years
Secondary Respiratory check-up - Chest radiography (non mesurable) 2 years
Secondary Genetic counselling activity - Genetic counseling appointment (non mesurable) 2 years
Secondary Muscle testing - 6-minute walk test (number of metres in 6 minutes) 2 years
Secondary Muscle testing motor function scale (french " MFM ") (32 items rated on a 4-point Likert scale) 2 years
Secondary Muscle testing ElectroNeuroMyogram (ENMG) with measurement of nerve conduction velocities (m/s) 2 years
Secondary Cardiological check-up - Holter-ECG during 24h : heart rhythm abnormality (beat per minute) 2 years
Secondary Cardiological check-up Measurement of Brain Natriuretic Peptid (BNP) (ng/L) 2 years
See also
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Active, not recruiting NCT04093349 - A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Phase 1/Phase 2
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