RecruitingNCT03458832

Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD


Sponsor

University of Kansas Medical Center

Enrollment

320 participants

Start Date

Mar 5, 2018

Study Type

OBSERVATIONAL

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.


Eligibility

Min Age: 18 YearsMax Age: 75 Years

Inclusion Criteria4

  • 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

Exclusion Criteria5

  • 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

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Interventions

DIAGNOSTIC_TESTFSHD-specific functional rating scale

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

DEVICEElectrical Impedance Myography

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.


Locations(14)

University of California Los Angeles

Los Angeles, California, United States

University of Kansas Medical Center

Kansas City, Kansas, United States

Kennedy Krieger Institute

Baltimore, Maryland, United States

University of Rochester Medical Center

Rochester, New York, United States

The Ohio State University

Columbus, Ohio, United States

University of Utah

Salt Lake City, Utah, United States

Virginia Commonwealth University

Richmond, Virginia, United States

University of Washington

Seattle, Washington, United States

Chu De Nice

Nice, France

Institut de Myologie

Paris, France

Ludwig-Maximilians-Universität München

München, Germany

Centro Clinico NeMO

Milan, Italy

Radboud Unviersity

Nijmegen, Netherlands

University of College London - Queens Square

London, United Kingdom

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NCT03458832