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Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics

NCT06086548 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 120

Last updated 2023-10-17

No results posted yet for this study

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

Interventions

OTHER

metabolomic on plasma sample

metabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling

Sponsors & Collaborators

  • University of Modena and Reggio Emilia

    collaborator OTHER

  • Federico II University

    collaborator OTHER

  • University Hospital, Angers

    lead OTHER_GOV

Eligibility

Min Age
18 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-01-31
Primary Completion
2026-01-31
Completion
2026-03-31

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06086548 on ClinicalTrials.gov