POEM: Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)
Study Details
Study Description
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
Condition or Disease | Intervention/Treatment | Phase |
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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.
Study Design
Outcome Measures
Primary Outcome Measures
- 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 Outcome Measures
- Muscle testing [2 years]
- Muscle Testing using Medical Research Counsil scale (MRC scale, total score ranging from 0 to 5)
- Cardiological check-up [2 years]
- ECG : QRS Complex and short PR space (milliseconde)
- Respiratory check-up [2 years]
- Chest radiography (non mesurable)
- Genetic counselling activity [2 years]
- Genetic counseling appointment (non mesurable)
- Muscle testing [2 years]
- 6-minute walk test (number of metres in 6 minutes)
- Muscle testing [2 years]
motor function scale (french " MFM ") (32 items rated on a 4-point Likert scale)
- Muscle testing [2 years]
ElectroNeuroMyogram (ENMG) with measurement of nerve conduction velocities (m/s)
- Cardiological check-up [2 years]
- Holter-ECG during 24h : heart rhythm abnormality (beat per minute)
- Cardiological check-up [2 years]
Measurement of Brain Natriuretic Peptid (BNP) (ng/L)
Other Outcome Measures
- Respiratory check-up [2 years]
- Blood gas : Pa O2 (mmHg) Pa CO2 (mmHg), pH
- Respiratory check-up [2 years]
Maximum Expiratory Volume in the 1st second during forced expiration, "VEMS"(L)
- Respiratory check-up [2 years]
o Functional Vital Capacity, " CV " (L)
- Respiratory check-up [2 years]
o percentage of FEV1 to vital capacity "VEMS%CV"
- Respiratory check-up [2 years]
o Mean Expiratory Flow " DEM) (L/s)
- Respiratory check-up [2 years]
- Polysomnography : index number of apneas per hour
- Genetic counselling activity [2 years]
- Biological sampling of relatives (non mesurable)
- Cardiological check-up [2 years]
echocardiogram (FEVG, measurement of cardiac walls in mm)
Eligibility Criteria
Criteria
Inclusion Criteria:
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• both sexes
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with permanent myalgia, spontaneous or on effort,
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with or without muscle deficit,
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with or without HyperCkemia
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without known etiologies
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Age from 6 to 80 years
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consulting for the first time or followed at CERCA
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giving their free and informed consent to participate after information on the research
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Affiliated to the social security system
Exclusion Criteria:
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Person placed under guardianship and/or curatorship
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Myalgias related to a known etiology
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | CHU de Martinique | Fort-de-France | Martinique |
Sponsors and Collaborators
- University Hospital Center of Martinique
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
- 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.
- 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.
- POEM