Long-term follow-up of patients with facioscapulohumeral muscular dystrophy
Ten Year Follow-up in FSHD; the FOCUS-3 Study
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 |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 6 Years and up |
| Sex | All |
| Sponsor | Radboud University Medical Center Academic / other |
| Locations | 1 site (Nijmegen) |
| Trial ID | NCT06911190 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include genetically confirmed adult and pediatric patients with FSHD who have previously participated in related studies.
Not a fit: Patients who are incapacitated or have contraindications for MRI scans may not benefit from this study.
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 performed: Other studies focusing on the natural history of FSHD have shown promise, indicating that this approach is grounded in previous successful research.
Eligibility criteria
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 this trial is running
Nijmegen
- Radboudumc — Nijmegen, Netherlands (Recruiting)
Study contacts
- Study coordinator: Eline Boon, MD
- Email: eline.tm.boon@radboudumc.nl
- Phone: 0686550949
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.