Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics

Facioscapulohumeral Muscular Dystrophy Clinical Trial

— METIN-FSHD  

Official title:

Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06086548
• Other study ID #: 49RC23_0340
• Status: Not yet recruiting
• Start date: January 2024
• Est. completion date: March 2026

Study information

• Verified date: October 2023
• Source: University Hospital, Angers
• Contact: Marco Spinazzi, MD, PhD
• Phone: +33 (0)2 41 35 51 19
• Email: Marco.Spinazzi[@]chu-angers.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 120
• Est. completion date: March 2026
• Est. primary completion date: January 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 60 Years

Eligibility

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.

Related Conditions & MeSH terms

• Facioscapulohumeral Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Facioscapulohumeral

Intervention

Other:
• metabolomic on plasma sample
metabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling

Locations

Country	Name	City	State
n/a

Sponsors (3)

Lead Sponsor	Collaborator
University Hospital, Angers	Federico II University, University of Modena and Reggio Emilia

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	metabolic profiling	to perform a detailed metabolic profiling by state-of-art plasma metabolomic coupled to the analysis of GDF15 and FGF21, two recently established biomarkers of mitochondrial dysfunction, in symptomatic FSHD patients of different clinical severity compared to controls	results should be obtained within 3 months following the inclusion of the last participant