Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD

NCT03458832 | Active Not Recruiting FDA Device

• 2 other identifiers: STUDY00140842U01NS101944
• Study Type: observational
• Target: 324
• Locations: 6 countries
• Sites: 14

Brief Summary

The primary cause of facioscapulohumeral muscular dystrophy (FSHD), a common adult-onset dystrophy, was recently discovered identifying targets for therapy. As multiple drug companies pursue treatments for FSHD, there is an urgent need to define the clinical trial strategies which will hasten drug development, including creating disease-relevant outcome measures and optimizing inclusion criteria. This proposal will develop two new outcome measures (FSHD-COM and EIM) and optimize eligibility criteria by testing 320 patients across 14 international sites over a period of 24 months.

Conditions

Facioscapulohumeral Muscular Dystrophy

Keywords

muscular dystrophy.; FSHD

Outcome Measures

Primary Outcomes (2)

• FSHD composite (FSHD-COM)

  The FSHD composite (FSHD-COM) is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.

  24 Months

• Electrical Impedance Myography (EIM)

  EIM is administered using an investigational device manufactured by Skulpt, Inc (Boston, MA) that non-invasively measures the impedance of skeletal muscle over a frequency range between 1 kHz and 10 MHz (Figure 2). The impedance is measured at each frequency by applying low-intensity electrical current (\<1 mA) via surface electrodes and measuring the resulting voltage signals using a second set of surface electrodes, converting them into 2 impedance parameters, the resistance and the reactance.

  24 Months

Secondary Outcomes (17)

• Motor Function Measure (MFM) Domain 1

  24 Months

• Facial Function

  24 Months

• Reachable Workspace (RWS)

  24 Months

• Manual Muscle Testing (MMT)

  24 Months

• Force Vital Capacity (FVC)

  24 Months

Study Arms (1)

FSHD-COM

All participants will be asked to undergo FSHD-specific functional rating scale tests and procedures and Electrical Impedance Myography.

Diagnostic Test: FSHD-specific functional rating scale; Device: Electrical Impedance Myography

Interventions

FSHD-specific functional rating scale DIAGNOSTIC_TEST

The FSHD-COM is composed of disease-relevant functional tasks such as leg function; shoulder and arm function; trunk function, hand function, and balance.

Also known as: FSHD-COM

FSHD-COM

Electrical Impedance Myography DEVICE

EIM is a non-invasive, painless, and fast technique for obtaining information on how a patient's muscle structure is changing. EIM uses a small electrical current to measure the health of the underlying muscle. The patient will be asked to lie down and a trained clinical evaluator will perform testing on 16 total muscles (8 on each side) on your arms and legs.

Also known as: EIM

FSHD-COM

Eligibility Criteria

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

Study Population

Participants with FSHD that are seen in the researchers clinic.

You may qualify if:

• Patients with genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring
• Patients with symptomatic limb weakness
• Patients must be able to walk 30 feet without the support of another person or assistance (canes, walking sticks, and braces allowed; no walker).
• If taking over the counter supplements, willing to remain consistent with supplement regimen throughout the course of the study

You may not qualify if:

• Patients with cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing, in the opinion of the Investigator)
• Patients with orthopedic conditions that preclude safe testing of muscle function
• Patients that regularly use available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
• Patients that have used an experimental drug in an FSHD clinical trial within the past 30 days
• Patients that are pregnant

Sponsors & Collaborators

• University of Kansas Medical Center: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• FSHD Society: collaborator
• Muscular Dystrophy Association: collaborator
• University of Rochester: collaborator
• Dyne Therapeutics: collaborator
• Friends Research Institute, Inc.: collaborator
• AFM Telethon: collaborator
• Leiden University Medical Center: collaborator

Study Sites (14)

University of California Los Angeles

Los Angeles, California, 90095, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

Location

University of Rochester Medical Center

Rochester, New York, 14642, United States

Location

The Ohio State University

Columbus, Ohio, 43210, United States

Location

University of Utah

Salt Lake City, Utah, 84132, United States

Location

Virginia Commonwealth University

Richmond, Virginia, 23298, United States

Location

University of Washington

Seattle, Washington, 98195, United States

Location

Chu De Nice

Nice, 06001, France

Location

Institut de Myologie

Paris, 75013, France

Location

Ludwig-Maximilians-Universität München

München, 80336, Germany

Location

Centro Clinico NeMO

Milan, 20162, Italy

Location

Radboud Unviersity

Nijmegen, 6525 XZ, Netherlands

Location

University of College London - Queens Square

London, WC1N 3BG, United Kingdom

Location

Related Publications (1)

• LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN18. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC Neurol. 2019 Sep 10;19(1):224. doi: 10.1186/s12883-019-1452-x.

  PMID: 31506080 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Each subject will have approximately 15 mL of blood collected at baseline and month 3 for genetic testing. The month 3 sample will be stored for use as a back-up for any lost samples, or for use in future studies.

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral; Muscular Dystrophies

Condition Hierarchy (Ancestors)

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

Study Officials

• Jeffrey Statland, MD

  University of Kansas Medical Center

  PRINCIPAL INVESTIGATOR

• Rabi Tawil, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 11, 2018
• First Posted: March 8, 2018
• Study Start: March 5, 2018
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: April 13, 2026

Record last verified: 2026-04

Locations

FR (2); NL (1); IT (1); DE (1); US (8); GB (1)