Clenbuterol to Target DUX4 in FSHD

NCT06721299 | Recruiting Phase 1 DMC FDA Drug

• 2 other identifiers: STUDY00150777P50AR065139
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 3

Brief Summary

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.

Conditions

Muscular Dystrophy, Facioscapulohumeral

Keywords

FSHD

Outcome Measures

Primary Outcomes (8)

• Frequency of Clenbuterol-related adverse reactions

  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.

  from baseline to 6 month visit

• change in heart rate

  Review of Vitals

  from Month 1 to Month 6 visit

• change in blood pressure

  Review of Vitals

  from Month 1 to Month 6 visit

• Safety Lab Potassium (K)

  patient safety measured by potassium for signs of hypokalemia

  Baseline to month 6 visit

• Safety Lab Glucose

  Patient safety measured by blood glucose abnormalities

  Baseline to month 6 visit

• Tolerability of 3 doses of clenbuterol in sequential cohorts

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

  from baseline to 6 month visit

• Safety ECG

  Looking for sympathomimetic side effects such as cardiac arrhythmias

  from Month 1 to Month 6 visit

• Safety Lab Creatine kinase (CK)

  Patient Safety measured by creatine kinase abnormalities

  Baseline to Month 6 visit

Secondary Outcomes (9)

• MRI

  Screening to Month 6 Visit

• Muscle Biopsy for RNA sequencing

  Baseline and Month 6

• FSHD-COM

  Screening to Month 6 Visit

• Manual Muscle Testing (MMT)

  Screening to Month 6 Visit

• Quantitative Muscle Testing (QMT)

  Screening to Month 6 Visit

Study Arms (3)

Clenbuterol Cohort 1

EXPERIMENTAL

20 mcg taken orally twice daily

Drug: Clenbuterol

Clenbuterol Cohort 2

EXPERIMENTAL

40 mcg taken orally twice daily

Drug: Clenbuterol

Clenbuterol Cohort 3

EXPERIMENTAL

60 mcg taken orally twice daily

Drug: Clenbuterol

Interventions

Clenbuterol DRUG

Beta-Agonist

Clenbuterol Cohort 1; Clenbuterol Cohort 2; Clenbuterol Cohort 3

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): collaborator
• University of Rochester: collaborator
• Jeffrey Statland: lead
• University of Washington: collaborator

Study Sites (3)

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

RECRUITING

University of Rochester Medical Center

Rochester, New York, 14642, United States

RECRUITING

University of Washington

Seattle, Washington, 98104, United States

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Interventions

Clenbuterol

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Ethanolamines; Amino Alcohols; Alcohols; Organic Chemicals; Amines

Central Study Contacts

Rebecca Clay

CONTACT

9139459936; rclay@kumc.edu

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor of Neurology

Model Details: Three sequential multiple ascending dose cohorts (of n=10 participants)

Study Record Dates

• First Submitted: September 5, 2024
• First Posted: December 6, 2024
• Study Start: June 25, 2025
• Primary Completion (Estimated): February 1, 2028
• Study Completion (Estimated): July 1, 2028
• Last Updated: February 25, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)