Clinical trial NCT05092230: Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)
Official title: Frequency of Pompe Disease in Patients Followed at CERCA for Myalgia With or Without Hyper Ckemia
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Pompe Disease
Keywords: frequency,
MARTINIQUE
observational study
myalgia
reference center for rare diseases
Lead sponsor: University Hospital Center of Martinique
Sponsor class: OTHER
First posted: 2021-10-25
Enrollment: 100
Sex: ALL
Minimum age (years): 6
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
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,

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

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.

Eligibility criteria: 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

Primary outcomes:
measure: Primary outcome measure
timeFrame: 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:
measure: Muscle testing
timeFrame: 2 years
measure: Cardiological check-up
timeFrame: 2 years
measure: Respiratory check-up
timeFrame: 2 years
measure: Genetic counselling activity
timeFrame: 2 years
measure: Muscle testing
timeFrame: 2 years
measure: Muscle testing
timeFrame: 2 years
measure: Muscle testing
timeFrame: 2 years
measure: Cardiological check-up
timeFrame: 2 years
measure: Cardiological check-up
timeFrame: 2 years
Other outcomes:
measure: Respiratory check-up
timeFrame: 2 years
measure: Respiratory check-up
timeFrame: 2 years
measure: Respiratory check-up
timeFrame: 2 years
measure: Respiratory check-up
timeFrame: 2 years
measure: Respiratory check-up
timeFrame: 2 years
measure: Respiratory check-up
timeFrame: 2 years
measure: Genetic counselling activity
timeFrame: 2 years
measure: Cardiological check-up
timeFrame: 2 years
Locations:
city: Fort-de-France
country: Martinique
facility: CHU de Martinique
Study officials:
References:
citation: 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.
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.