Improving drug development for facioscapulohumeral muscular dystrophy
Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
This study is testing new ways to measure how well treatments work for people with facioscapulohumeral muscular dystrophy to help speed up the development of new therapies.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 320 (estimated) |
| Ages | 18 Years to 75 Years |
| Sex | All |
| Sponsor | University of Kansas Medical Center Academic / other |
| Locations | 14 sites (Los Angeles, California and 13 other locations) |
| Trial ID | NCT03458832 on ClinicalTrials.gov |
What this trial studies
This study aims to accelerate drug development for facioscapulohumeral muscular dystrophy (FSHD) by creating new clinical outcome measures and optimizing eligibility criteria. Researchers will test 320 patients across 14 international sites over 24 months to validate these measures. The study focuses on the disease mechanism involving the DUX4 gene and seeks to establish tools necessary for upcoming therapeutic trials. By addressing gaps in clinical trial planning, the study aims to facilitate the development of targeted therapies for FSHD.
Who should consider this trial
Good fit: Ideal candidates include patients with genetically confirmed FSHD1 or a clinical diagnosis of FSHD who exhibit symptomatic limb weakness.
Not a fit: Patients with significant cardiac or respiratory dysfunction, orthopedic conditions affecting muscle function, or those using certain muscle agents may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more effective clinical trials and faster access to new treatments for patients with FSHD.
How similar studies have performed: Other studies have shown promise in developing outcome measures for muscular dystrophies, but this specific approach is novel in the context of FSHD.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients with genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring * Patients with symptomatic limb weakness * Patients must be able to walk 30 feet without the support of another person or assistance (canes, walking sticks, and braces allowed; no walker). * If taking over the counter supplements, willing to remain consistent with supplement regimen throughout the course of the study Exclusion Criteria: * Patients with cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing, in the opinion of the Investigator) * Patients with orthopedic conditions that preclude safe testing of muscle function * Patients that regularly use available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists * Patients that have used an experimental drug in an FSHD clinical trial within the past 30 days * Patients that are pregnant
Where this trial is running
Los Angeles, California and 13 other locations
- University of California Los Angeles — Los Angeles, California, United States (Completed)
- University of Kansas Medical Center — Kansas City, Kansas, United States (Completed)
- Kennedy Krieger Institute — Baltimore, Maryland, United States (Completed)
- University of Rochester Medical Center — Rochester, New York, United States (Completed)
- The Ohio State University — Columbus, Ohio, United States (Completed)
- University of Utah — Salt Lake City, Utah, United States (Completed)
- Virginia Commonwealth University — Richmond, Virginia, United States (Completed)
- University of Washington — Seattle, Washington, United States (Completed)
- Chu De Nice — Nice, France (Active_not_recruiting)
- Institut de Myologie — Paris, France (Recruiting)
- Ludwig-Maximilians-Universität München — München, Germany (Recruiting)
- Centro Clinico NeMO — Milano, Italy (Recruiting)
- Radboud Unviersity — Nijmegen, Netherlands (Completed)
- University of College London - Queens Square — London, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Jeffrey Statland, MD — University of Kansas Medical Center
- Study coordinator: Michaela Walker
- Email: mwalker20@kumc.edu
- Phone: 913-945-9920
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.