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

Pompe Disease Clinical Trial

— POEM  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05092230
• Other study ID #: POEM
• Status: Recruiting
• 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
• 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

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Myalgia
• Pompe Disease

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