Clenbuterol treatment targeting DUX4 in FSHD
Clenbuterol to Target DUX4 in FSHD (Target FSHD): Open Label Safety and Tolerability Study of 3 Doses of Clenbuterol
Try clenbuterol at three dose levels in adults with FSHD to see if it is safe and tolerable.
Quick facts
| Phase | Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 30 (estimated) |
| Ages | 18 Years to 75 Years |
| Sex | All |
| Sponsor | University of Kansas Medical Center Academic / other |
| Locations | 3 sites (Kansas City, Kansas and 2 other locations) |
| Trial ID | NCT06721299 on ClinicalTrials.gov |
What this trial studies
This is a 6-month, open-label, multiple ascending dose Phase 1 program testing clenbuterol in adults with genetically or clinically confirmed FSHD. The primary goal is to determine safety and tolerability across three dose levels to identify the best dose for a future efficacy trial. Secondary measures collected at baseline and end of treatment include muscle function tests, MRI measures (lean muscle volume, fat infiltration, STIR), histopathology, and predetermined molecular baskets of DUX4-target, inflammation, and ECM genes. The approach is a repurposing of an EMA-approved COPD drug supported by patient-derived screens showing suppression of DUX4 in cultured FSHD muscle.
Who should consider this trial
Good fit: Adults 18–75 with genetically confirmed FSHD1 or FSHD2 (or clinical FSHD1 with a first-degree relative mutation), able to walk 30 feet unaided, with a clinical severity score of 0–10 and meeting the muscle strength or MRI/biopsy eligibility criteria.
Not a fit: Patients who are pregnant, have poorly controlled medical conditions, are taking excluded medications (e.g., beta-blockers, GLP-1 agonists, potassium-wasting diuretics, anabolic agents), recently participated in other experimental-agent studies, or cannot undergo required MRIs/biopsies are unlikely to be eligible or benefit.
Why it matters
Potential benefit: If successful, this could identify a safe dose of clenbuterol that reduces DUX4-related activity and potentially stabilizes or improves muscle health in people with FSHD.
How similar studies have performed: Prior clinical studies of related beta2-agonists showed some activity but did not meet primary endpoints, while independent patient-derived preclinical screens identified clenbuterol as a suppressor of DUX4 expression, so the approach is promising but not yet proven clinically.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Genetically confirmed diagnosis of FSHD type 1 or 2, or have a clinical diagnosis of FSHD type 1 with a first degree relative with confirmed mutation * between 18 and 75 years of age * with a clinical severity score between 0 and 10 * Able to walk 30ft without support of another person * Showing anti-gravity strength on at least one of the tibialis anterior muscles or having an MRI eligible muscle in the leg for needle biopsy * willing and able to provide informed consent * agree to follow the contraceptive requirement for duration of the study Exclusion Criteria: * Pregnant or planning to become pregnant during the conduct of the study * have a poorly controlled medical condition * Were involved in a study of an experimental agent within 3 months of enrollment * Are taking beta-blockers or anabolic agent or potassium wasting diuretics * Are taking or are planning to take a GLP-1 Agonist during trial * have any condition or contraindication which would interfere with testing or preclude use of beta-agonist * Are taking blood thinners or medications which make a needle muscle biopsy contra-indicated * Has contraindication to lactose such as galactosmia, lactase deficiency and glucose-galactose malabsorption. For those who are lactose intolerant, the PI will determine acceptability based on tolerance reaction to lactose * Are taking any medications or therapies with a contraindication to Clenbuterol
Where this trial is running
Kansas City, Kansas and 2 other locations
- University of Kansas Medical Center — Kansas City, Kansas, United States (Recruiting)
- University of Rochester Medical Center — Rochester, New York, United States (Recruiting)
- University of Washington — Seattle, Washington, United States (Recruiting)
Study contacts
- Study coordinator: Rebecca Clay
- Email: rclay@kumc.edu
- Phone: 9139459936
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.