Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics (METIN-FSHD)

University Hospital, Angers

Status

Not yet enrolling

Conditions

Facioscapulohumeral Muscular Dystrophy

Treatments

Other: metabolomic on plasma sample

Study type

Observational

Funder types

Other

Identifiers

NCT06086548

49RC23_0340

Details and patient eligibility

About

The pathogenesis of facioscapulohumeral dystrophy (FSHD), one of the most prevalent types of inherited muscle disease, is unknown. The reasons underlying its significant clinical heterogeneity, incomplete penetrance, and sex specific differences in the age of onset, are not currently understood. While metabolic changes associated with this disease have so far deserved little attention, recent studies have pinpointed significant metabolic dysregulation as an emerging driving mechanism in the pathophysiology of this untreatable disease. To test this hypothesis, we will perform a deep metabolic phenotyping in a large cohort of highly clinically characterized FSHD patients at different stage of disease and age/sex-matched controls by state-of-art plasma metabolomic and mitochondrial biomarker profiling. These data will allow attributing specific metabolomic signatures to different stages of the disease in each sex. Metabolic pathway analysis will allow gaining insights into the type of metabolic dysregulation associated with the disease pathogenesis, leading to the identification of targeted metabolic/nutritional interventions and biomarker discovery.

Enrollment

120 estimated patients

Sex

All

Ages

18 to 60 years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

participant fasting for at least 8 h at the time of blood sampling
patient with a molecular diagnosis of FSHD (know number of D4Z4 contractions)
patient with a typical FSHD presentation (at least facial, pelvic ans scapular girdles signs)
patient with a preserved ability to ambulate at the time of the selection (use of a cane is allowed)

Exclusion criteria