Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD



Status:Recruiting
Conditions:Neurology
Therapuetic Areas:Neurology
Healthy:No
Age Range:18 - 75
Updated:2/8/2019
Start Date:March 5, 2018
End Date:March 2022
Contact:Kiley Higgs
Email:ksims2@kumc.edu
Phone:913-945-9922

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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 and optimize eligibility criteria by testing 160 patients in 7 sites over a period
of 18 months.

The overall aim of this study is to hasten drug development for facioscapulohumeral muscular
dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease
mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic
gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using
epigenetic strategies or RNA therapies, as well as to other interventions targeting the
downstream effects of DUX4 expression. There are many drug companies actively working towards
disease-targeted therapies, and two clinical trials either under way now, or planned to start
in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers
have identified several gaps in the clinical trial arsenal, and clinical trial planning as a
major goal for the community. Consequently, there is an urgent need to establish the tools
necessary for the conduct of currently planned and expected therapeutic trials in FSHD.

To this end, the researchers propose to develop two novel clinical outcome assessments (COA),
a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical
impedance myography (EIM). In addition there is broad consensus a better understanding of the
relationship of genetic and demographic features to disease progression will be necessary for
enumerating eligibility criteria.

The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the
responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically
meaningful changes, and 3. establish FSHD cohort characteristics useful for determining
clinical trial eligibility criteria. To achieve these aims, the researchers are conducting a
multicenter, prospective, 18 months study of 160 subjects.

Inclusion Criteria:

- 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 Criteria:

- 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
We found this trial at
8
sites
Richmond, Virginia 23298
(804) 828-0100
Principal Investigator: Nicholas Johnson, MD
Phone: 804-628-6480
Virginia Commonwealth University Since our founding as a medical school in 1838, Virginia Commonwealth University...
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Richmond, VA
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707 North Broadway
Baltimore, Maryland 21205
443-923-9200
Principal Investigator: Kathryn Wagner, MD
Phone: 443-923-2697
Kennedy Krieger Institute While not officially part of Johns Hopkins Medicine, Kennedy Krieger Institute is...
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Baltimore, MD
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Los Angeles, California 90095
310-825-4321
Principal Investigator: Perry Shieh, MD
Phone: 310-825-3264
University of California at Los Angeles The University of California, Los Angeles (UCLA) is an...
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Los Angeles, CA
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601 Elmwood Avenue
Rochester, New York 14642
(585) 275-2100
Principal Investigator: Rabi Tawil, MD
Phone: 585-275-7680
Univ of Rochester Medical Center One of the nation's top academic medical centers, the University...
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Rochester, NY
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201 Presidents Circle
Salt Lake City, Utah 84108
801) 581-7200
Principal Investigator: Russ Butterfield, MD
Phone: 801-585-9399
University of Utah Research is a major component in the life of the U benefiting...
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Salt Lake City, UT
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Seattle, Washington 98104
(206) 543-2100
Principal Investigator: Leo Wang, MD
Phone: 206-543-0081
Univ of Washington Founded in 1861 by a private gift of 10 acres in what...
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Seattle, WA
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281 W. Lane Ave
Columbus, Ohio 43210
(614) 292-6446
Principal Investigator: Samantha LoRusso, MD
Phone: 614-293-6953
Ohio State University The Ohio State University’s main Columbus campus is one of America’s largest...
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Columbus, OH
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3901 Rainbow Blvd
Kansas City, Kansas 66160
(913) 588-5000
Principal Investigator: Jeffrey Statland, MD
Phone: 913-945-9928
University of Kansas Medical Center The University of Kansas Medical Center serves Kansas through excellence...
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Kansas City, KS
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