Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics

NCT ID: NCT06086548

Last Updated: 2023-10-17

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 120 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-01-31
• Study Completion Date: 2026-03-31

Brief Summary

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.

Conditions

Facioscapulohumeral Muscular Dystrophy

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: RETROSPECTIVE

Study Groups

cases

patients with molecular diagnosis of facioscapulohumeral dystrophy

metabolomic on plasma sample

Intervention Type: OTHER

metabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling

controls

healthy volunteers

metabolomic on plasma sample

Intervention Type: OTHER

metabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling

Interventions

metabolomic on plasma sample

metabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling

Intervention Type: OTHER

Eligibility Criteria

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

• Severe cardiac and respiratory dysfunction.
• Presence of severe systemic diseases unrelated to FSHD.
• Presence of uncontrolled diabetes or hypothyroidism.
• Alcohol or toxic abuse.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University of Modena and Reggio Emilia

OTHER

Sponsor Role: collaborator

Federico II University

OTHER

Sponsor Role: collaborator

University Hospital, Angers

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Central Contacts

Marco Spinazzi, MD, PhD

Role: CONTACT

Marco.Spinazzi@chu-angers.fr

+33 (0)2 41 35 51 19

Other Identifiers

49RC23_0340

Identifier Type: -

Identifier Source: org_study_id