Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Centre Hospitalier Universitaire de Nice
Age
18–any
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
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
You may not be if
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)
Clareo Health | ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study
