Characterizing the molecular features of Facio-Scapulo-Humeral Dystrophy
Clinical and Molecular Characterization of Facioscapulohumeral Muscular Dystrophy (FSHD)
This study is trying to understand the changes in muscle tissue of people with Facio-Scapulo-Humeral Dystrophy to help develop better treatments in the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 25 (estimated) |
| Ages | 13 Years and up |
| Sex | All |
| Sponsor | Nationwide Children's Hospital Academic / other |
| Locations | 1 site (Columbus, Ohio) |
| Trial ID | NCT06096441 on ClinicalTrials.gov |
What this trial studies
This study aims to characterize the clinical and molecular phenotype of Facio-Scapulo-Humeral Dystrophy (FSHD) by validating alterations in biomarkers in muscle tissue from affected patients. It focuses on the upregulation of the DUX4 gene and protein, which is central to the condition. The investigators will assess the correlation between these biomarkers and clinical functional measures, while also exploring the use of muscle MRI to identify suitable regions for sampling. This research is a preparatory step for future clinical trials targeting FSHD.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 13 years or older with genetically confirmed FSHD1 or FSHD2.
Not a fit: Patients unable to complete an MRI scan or those with other medical or cognitive issues that hinder accurate functional assessment may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and potential treatments for patients with FSHD.
How similar studies have performed: While this approach is focused on validating biomarkers in FSHD, similar studies in other neuromuscular disorders have shown promise in identifying relevant biomarkers and correlating them with clinical outcomes.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 13 years or older * Genetically proven FSHD1 or FSHD2 as determined by the investigators Exclusion Criteria: * Inability to complete an MRI scan (Adults only). * Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.
Where this trial is running
Columbus, Ohio
- The Abigail Wexner Research Institute at Nationwide Children's Hospital — Columbus, Ohio, United States (Recruiting)
Study contacts
- Principal investigator: Kevin Flanigan, MD — Nationwide Children's Hospital
- Study coordinator: Sarah Atkins
- Email: sarah.atkins@nationwidechildrens.org
- Phone: 614-355-7686
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.