Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics

Launched by UNIVERSITY HOSPITAL, ANGERS · Oct 11, 2023

Keywords

ClinConnect Summary

This clinical trial is studying facioscapulohumeral muscular dystrophy (FSHD), a common inherited muscle disease that affects how muscles function. Researchers want to understand more about the metabolic changes—meaning how the body processes substances like food and energy—that might be linked to FSHD. By looking at blood samples from patients with FSHD at different stages of the disease and comparing them to healthy individuals, the researchers hope to find specific patterns that could help explain why the disease affects people differently and might lead to new treatments.

To be eligible for this trial, participants need to have been diagnosed with FSHD and show typical signs of the disease, such as weakness in the face, pelvis, and shoulder areas. They also need to be able to walk independently, although using a cane is acceptable. Participants will need to fast for at least 8 hours before providing blood samples. Those with serious heart or breathing problems, other major health issues, or uncontrolled diabetes will not be able to join. This research aims to uncover important information that could guide future therapies and better understand the disease.

Gender

ALL

Eligibility criteria

• 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.