Clinical Trials Logo

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.


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms

  • Facioscapulohumeral Muscular Dystrophy
  • Muscular Dystrophies
  • Muscular Dystrophy, Facioscapulohumeral

NCT number NCT06086548
Study type Observational
Source University Hospital, Angers
Contact Marco Spinazzi, MD, PhD
Phone +33 (0)2 41 35 51 19
Email Marco.Spinazzi@chu-angers.fr
Status Not yet recruiting
Phase
Start date January 2024
Completion date March 2026

See also
  Status Clinical Trial Phase
Recruiting NCT00082108 - Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Completed NCT02579239 - Evaluate Safety and Biological Activity of ATYR1940 in Participants With Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Facioscapulohumeral Muscular Dystrophy (FSHD) Phase 1/Phase 2
Terminated NCT02927080 - Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Phase 2
Completed NCT02625662 - Facioscapulohumeral Dystrophy in Children
Recruiting NCT04001582 - The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
Recruiting NCT06425445 - Quantitative Assessment of Orofacial Muscle Function in FSHD N/A
Terminated NCT03943290 - Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX) Phase 2
Completed NCT01596803 - Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) N/A
Active, not recruiting NCT03458832 - Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
Completed NCT02766985 - Rasch-analysis of Clinical Severity in FSHD
Active, not recruiting NCT01671865 - Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
Completed NCT02413190 - Bone Health in Facioscapulohumeral Muscular Dystrophy
Completed NCT01931644 - At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
Completed NCT01437345 - A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD N/A
Completed NCT02836418 - Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Participants With Limb Girdle and Facioscapulohumeral Muscular Dystrophy (FSHD) Phase 1/Phase 2
Completed NCT00821548 - Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients N/A
Completed NCT05178706 - Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia)
Completed NCT00104078 - Study Evaluating MYO-029 in Adult Muscular Dystrophy Phase 1/Phase 2
Recruiting NCT05019625 - Biomarker Development for Muscular Dystrophies
Completed NCT03123913 - Study of Testosterone and rHGH in FSHD Phase 1