Status:
NOT_YET_RECRUITING
Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics
Lead Sponsor:
University Hospital, Angers
Collaborating Sponsors:
University of Modena and Reggio Emilia
Federico II University
Conditions:
Facioscapulohumeral Muscular Dystrophy
Eligibility:
All Genders
18-60 years
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, incomp...
Eligibility Criteria
Inclusion
- 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
- Severe cardiac and respiratory dysfunction.
- Presence of severe systemic diseases unrelated to FSHD.
- Presence of uncontrolled diabetes or hypothyroidism.
- Alcohol or toxic abuse.
Key Trial Info
Start Date :
January 1 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 1 2026
Estimated Enrollment :
120 Patients enrolled
Trial Details
Trial ID
NCT06086548
Start Date
January 1 2024
End Date
March 1 2026
Last Update
October 17 2023
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