Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics

NCT06086548 | Not Yet Recruiting

• 1 other identifier: 49RC23_0340
• Study Type: observational
• Target: 120
• Locations: 0 countries
• Sites: N/A

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

cases

patients with molecular diagnosis of facioscapulohumeral dystrophy

Other: metabolomic on plasma sample

controls

healthy volunteers

Other: metabolomic on plasma sample

Interventions

metabolomic on plasma sample OTHER

metabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling

cases; controls

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Recruitment of participants will be conducted at Centre Hospitalier Universitaire d'Angers. All subjects will be clinically evaluated on the basis of the CCEF evaluation protocol. Informed consent will be obtained according to the declaration of Helsinki by each participant after explanations on the research protocol and scientific aims. Patients will be excluded when they have other disorders that will influence the measurements. Age- and sex-matched healthy subjects will be included through specific calls depending on age.

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Angers: lead
• University of Modena and Reggio Emilia: collaborator
• Federico II University: collaborator

Biospecimen

Retention: SAMPLES WITHOUT DNA

heparinated plasma samples

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Marco Spinazzi, MD, PhD

CONTACT

+33 (0)2 41 35 51 19; Marco.Spinazzi@chu-angers.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 11, 2023
• First Posted: October 17, 2023
• Study Start: January 1, 2024
• Primary Completion: January 1, 2026
• Study Completion: March 1, 2026
• Last Updated: October 17, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will not share