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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