New measures to evaluate non-ambulant patients with FSHD
ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study
This study is trying out new ways to measure how facioscapulohumeral muscular dystrophy affects people who can't walk, to help better understand their condition and its progression.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 30 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire de Nice Academic / other |
| Locations | 1 site (Nice, Alpes Maritimes) |
| Trial ID | NCT05453461 on ClinicalTrials.gov |
What this trial studies
This pilot study focuses on developing and validating new clinical outcome measures (COMs) specifically for non-ambulant patients suffering from facioscapulohumeral muscular dystrophy (FSHD). The study aims to address the challenges in predicting disease progression and severity due to the clinical variability of FSHD. Participants will include individuals aged 18-75 with a confirmed diagnosis of FSHD who are wheelchair-bound or have limited mobility. The study will assess the effectiveness of these new measures in capturing the disease's impact on patients' lives.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18-75 with genetically confirmed FSHD or a clinical diagnosis, experiencing significant limb weakness and using a wheelchair daily.
Not a fit: Patients with comorbidities that could affect disease progression or those using certain muscle anabolic agents may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved assessment tools that better reflect the condition of non-ambulant FSHD patients, facilitating more effective clinical trials and treatment strategies.
How similar studies have performed: While there have been studies focusing on FSHD, the specific approach of developing new COMs for non-ambulant patients is relatively novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion 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)
Where this trial is running
Nice, Alpes Maritimes
- CHU de Nice — Nice, Alpes Maritimes, France (Recruiting)
Study contacts
- Study coordinator: Sabrina SACCONI
- Email: sacconi.s@chu-nice.fr
- Phone: 04 92 03 57 57
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.