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Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT06086548
Other study ID # 49RC23_0340
Secondary ID
Status Not yet recruiting
Phase
First received
Last updated
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
Health authority
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.

Study Design


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
See also
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