ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE NICE · Jul 11, 2022

Keywords

ClinConnect Summary

The ADVANCED FSHD-COM clinical trial is studying ways to measure how facioscapulohumeral muscular dystrophy (FSHD) affects patients who cannot walk. FSHD is a muscle disease that leads to weakness, primarily starting in the face and shoulders, and can worsen over time, sometimes requiring the use of a wheelchair. This study aims to develop new methods, called clinical outcome measures, to better understand how the disease progresses and how effective new treatments may be.

To participate in this trial, individuals must be between 18 and 75 years old, have a confirmed diagnosis of FSHD, and use a wheelchair daily. They should also have some ability to stand or walk with assistance. Participants will undergo assessments to help researchers learn more about the disease and improve future treatments. It's important to note that individuals with other health issues that could affect the study outcomes or who are pregnant cannot participate. This trial is a vital step in ensuring that treatments for FSHD are effective for all patients, especially those who are more severely affected.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring
• • Age 18-75 years
• • Symptomatic limb weakness
• • FSHD patients who use the wheelchair daily and are able to stand or to walk at most 30 meters with assistance, and wheelchair-bound patients who are unable to walk.
• • Clinical severity score (CSS) ≥ 8
• • Patient affiliated to the social security system
• • Patient giving written consent after written and oral information.
• • If taking over the counter supplements, willing to remain consistent with supplement regimen throughout the course of the study
• Exclusion Criteria:
• • Patients with comorbidity not related to the disease that can modify the natural evolution of the disease or would interfere with safe testing in the opinion of the Investigator
• • Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
• • Use of an experimental drug in an FSHD clinical trial within the past 30 days
• • Pregnancy
• • Vulnerable person (person deprived of their administrative and legal liberty, hospitalized person for other purposes than research)