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NCT Number: NCT06721299

Clenbuterol to Target DUX4 in FSHD

The purpose of this study is to determine if Clenbuterol is a therapeutic option for FSHD by determining the safety and tolerability of the medication at three different dose levels.

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Key information

Conditions

Muscular Dystrophy, Facioscapulohumeral Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

18 year–75 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1

Primary location

University of Kansas Medical Center, Kansas City, Kansas, United States

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About this study

Clenbuterol is an EMA approved drug for COPD that three independent patient derived screens identified as suppressing DUX4 expression in cultured FSHD muscle. Prior clinical studies with related beta2-agonists showed some activity in FSHD but did not meet their primary endpoint, although the prior studies would likely have been designed differently with current knowledge. Target FSHD is a 6-month open-label multiple ascending dose study of clenbuterol for safety and tolerability to determine the best dose for a future trial of efficacy. In addition, this study will collect secondary outcome data on muscle function, MRI changes (lean muscle volume, fat infiltration, STIR-rating) and molecular markers of disease activity (histopathology and pre-determined baskets of DUX4-target, inflammation, and ECM genes) at the beginning and end of the study to assess and power their utility as measures of drug activity in a future interventional study of efficacy.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Clenbuterol

Drug

Beta-Agonist

Primary outcomes

  1. Frequency of Clenbuterol-related adverse reactions

    Time frame: from baseline to 6 month visit

    Patient report and medical records will be used to document adverse events and severe adverse events. Adverse events and severe adverse events will be assessed by the investigator and reported as needed for safety.

  2. change in heart rate

    Time frame: from Month 1 to Month 6 visit

    Review of Vitals

  3. change in blood pressure

    Time frame: from Month 1 to Month 6 visit

    Review of Vitals

  4. Safety Lab Potassium (K)

    Time frame: Baseline to month 6 visit

    patient safety measured by potassium for signs of hypokalemia

  5. Safety Lab Glucose

    Time frame: Baseline to month 6 visit

    Patient safety measured by blood glucose abnormalities

  6. Tolerability of 3 doses of clenbuterol in sequential cohorts

    Time frame: from baseline to 6 month visit

    Tolerability will be defined as completing an arm without any clenbuterol related adverse events causing someone to withdraw

  7. Safety ECG

    Time frame: from Month 1 to Month 6 visit

    Looking for sympathomimetic side effects such as cardiac arrhythmias

  8. Safety Lab Creatine kinase (CK)

    Time frame: Baseline to Month 6 visit

    Patient Safety measured by creatine kinase abnormalities

Secondary outcomes

  1. MRI

    Time frame: Screening to Month 6 Visit

    MRI measurements are considered gold standard for lean muscle volume measurement and disease biomarkers (fat volumes, fat faction, and STIR+ presence) that may be modulated by treatment. In addition, we will include analysis to help make needle biopsy based on STIR and quantitative fat fraction more efficient with higher yield using standard fiducial markings and body landmarks.

  2. Muscle Biopsy for RNA sequencing

    Time frame: Baseline and Month 6

    change in a set of DUX4-regulated genes as measured in muscle using RNA sequencing. goal is to better understand the molecular changes in muscle tissue effected by the use of Clenbuterol.

  3. FSHD-COM

    Time frame: Screening to Month 6 Visit

    An 18-item evaluator administered instrument comprised of individually validated functional motor task.the body regions assessed match areas of importance identified by patients and include leg function; shoulder and arm function; trunk function, hand function; and functional balance

  4. Manual Muscle Testing (MMT)

    Time frame: Screening to Month 6 Visit

    a modified Medical Research Council 13-point scale with standardized positions for each muscle will help look at subject's change in strength over time.

  5. Quantitative Muscle Testing (QMT)

    Time frame: Screening to Month 6 Visit

    Will test 5 bilateral muscles using a fixed myometry testing system with a force transducer attached by an inelastic strap to a metal frame, This will help us assess subjects change in strength

  6. Patient Reported Outcome Measurement Information System-57 (Promis57)

    Time frame: Screening to Month 6 Visit

    The PROMIS57 is an instrument developed by the NIH which generates scores for physical function, and the impact of physical limitations on daily life. 57 questions are summed into a total score, which is transformed into a normalized t-score with 50 representing normal, and lower scores representing increasing disability.

  7. FSHD Rasch-built overall disability scale (FSHD-RODS)

    Time frame: Screening to Month 6 Visit

    The FSHD-RODS is a questionnaire about the relationship between daily activities and health. 32 questions are are constructed using a modern clinimetric technique, the Rasch analysis, which by ordering the items in increasing difficulty, allows for the calculation of the sum of item scores to achieve a total score. Answers provide information about how FSHD affects daily and social activities and to what degree participants are able to perform usual activities.

  8. Upper Extremity Functional Index (UEFI)

    Time frame: Screening to Month 6 visit

    This index measures upper extremity dysfunction. 20 questions are combined into a total score, the score is transformed into a normalized score with 80 representing normal, and lower scores representing increasing disability.

  9. Clinical Global Impression of Severity and Change (CGI-S and CGI-C)

    Time frame: Screening to Month 6 visit

    Is a rating scale that measures symptom severity and change in severity in response to treatment in clinical trials.

Study contacts

Contact information is provided by the study sponsor or research team.

Rebecca Clay

CONTACT

[email protected]

9139459936

Sponsors and collaborators

Lead sponsor

Jeffrey Statland

Other

Collaborators

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
  • University of Rochester
  • University of Washington

Registry information

Official study title

Clenbuterol to Target DUX4 in FSHD (Target FSHD): Open Label Safety and Tolerability Study of 3 Doses of Clenbuterol

Acronym: Target FSHD

Important dates

Study start
2025
Primary completion
2028
Study completion
2028
First posted
Dec 6, 2024
Registry last updated
Feb 25, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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