Long-term follow-up of patients with facioscapulohumeral muscular dystrophy
Official title: Ten Year Follow-up in FSHD; the FOCUS-3 Study
Run by Radboud University Medical Center · NCT06911190 · Data updated 2026-11-12
This study follows 200 people with facioscapulohumeral muscular dystrophy for ten years to see how the disease changes over time and to find better ways to treat it.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 6 Years and up |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Radboud University Medical Center Academic / other |
| Locations | 1 site (Nijmegen) |
| Status | Recruiting |
| Started | September 1, 2024 |
| Main results expected | December 30, 2025 |
| Study ends | December 30, 2025 |
| Registry record updated | April 4, 2025 |
| Trial ID | NCT06911190 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include genetically confirmed adult and pediatric patients with FSHD who have previously participated in related studies.
✕Probably not a fit
Patients who are incapacitated or have contraindications for MRI scans may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study follows 200 genetically and clinically defined patients with facioscapulohumeral muscular dystrophy (FSHD) over a ten-year period. The aim is to gather longitudinal data to understand the natural progression of the disease, identify sensitive outcome measures, and validate new biomarkers that could inform future therapeutic approaches. By assessing both adult and pediatric populations, the study seeks to uncover the factors influencing clinical variability in FSHD. This research is crucial for developing targeted therapies and improving patient care.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of FSHD, ultimately improving the quality of life for patients.
How similar studies have gone: Other studies focusing on the natural history of FSHD have shown promise, indicating that this approach is grounded in previous successful research.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * All 162 genetically confirmed FSHD patients that participated in the FSHD-FOCUS 2 and 18 genetically conformed pediatric FSHD patient that participated in the FSHD-iFocus study and are informed about the genetic confirmation of FSHD. The 65 newly included patients need to provide genetical confirmation of the disease. Exclusion Criteria: * No incapacitated persons will be included in this study. Persons with contra-indications for MRI-scan are excluded for that one procedure, but can be included in the study. Contraindications for MRI-scan include metallic implants (vascular clips, foreign bodies like metallic splinters in the eye, coronary and peripheral artery stents, prosthetic heart valves, pacemakers and ICD's, cochlear implants, breast tissue expanders and some other electronic implants or devices), renal insufficiency, previous allergic reaction to contrast fluids and known claustrophobia. * Participant in medication trial
Where it's running
-
Radboudumc
Nijmegen, Netherlands Recruiting
Study contacts
- Study coordinator: Eline Boon, MD
- Email: eline.tm.boon@radboudumc.nl
- Phone: 0686550949
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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BetterLife FSHD: a patient-driven health platform
This project tries to connect people with FSHD to personalized resources and collect their health experiences so they can be matched to relevant studies and help improve care.
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Del-brax (AOC 1020) intravenous treatment for people with FSHD
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Safety and early efficacy test of SFL-0821 in adults with FSHD
This study will test whether SFL-0821 is safe and tolerable and whether it shows early signs of benefit in adults with Facioscapulohumeral Muscular Dystrophy (FSHD).
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Apitegromab for FSHD in Adults (Phase 2)
This study tests whether apitegromab works as a standalone treatment for adults with FSHD.
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Personalized exercise treatment for adults with rare neuromuscular disorders
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.