Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD

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.

Eligibility Criteria

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

Principal Investigator

Jeffrey Statland, MD

Study Contact

Ayla McCalley, amccalley2@kumc.edu, 913-945-9937

Estimated Completion Date

Tuesday, March 1, 2022

ClinicalTrials.gov #

NCT03458832
03/07/2018