Recruiting

Observational Study

Sponsor:

University of Kansas Medical Center

Code:

NCT06847282

Conditions

Muscular Dystrophy, Facioscapulohumeral

Eligibility Criteria

Sex: All

Age: 5 - 17

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The primary goal of this study is to validate motor and functional outcomes and refine clinical trial strategies for pediatric-onset FSHD

Conditions

Muscular Dystrophy, Facioscapulohumeral

Study ID

NCT06847282

Start date

May 22, 2025

Status verified date

Feb, 2026

Completion date

May, 2028

Anticipated

Primary completion date

May, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 5 - 17

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Age 5-17 years.
  • Genetically confirmed FSHD (types 1 or 2).
  • Symptomatic weakness (facial, shoulder, core, or limb weakness)
  • Able to complete a 10-meter walk without the support of another person in less than 12 seconds (canes, walking sticks, and braces allowed; no walker). In order to include early onset participants up to 8 individuals will be entered with baseline 10MWR > 12 seconds or who are no longer ambulatory (≤10%)

Exclusion Criteria:

  • Unwilling or unable to provide informed consent or assent. Any other medical condition which in the opinion of the investigator would interfere with study participation.
  • Malignancy with ongoing treatment with chemotherapeutic agents or anabolic agents
  • Use of immunosuppressants including prednisone or performance enhancing drugs including testosterone within 6 months
  • Pregnancy
  • Recent or ongoing infection
  • Presence of contraindication to performance of MRI: pacemaker, metallic foreign body in eye, brain aneurysm clip (unless documented as MRI compatible)
  • In the opinion of the investigator unable to follow directions for standardized testing

  • Note: Not being able to complete MRI will not result in a screen failure. If subject is not able to complete the procedure due to fear or anxiety, they will have the opportunity to try again at later visits. However, Subject must be willing to attempt to perform the MRI to meet inclusion/exclusion criteria

Study Design

Enrollment

80 participants

Anticipated

Interventions and Outcome Measures

Arms

Cohort One

Cohort One will be individuals who are able to complete the 10 meter walk/run test in less than twelve seconds

Cohort Two

cohort two will be individuals who complete the 10 meter walk/run test in more than 12 seconds or is no longer able to complete.

Primary outcome measure

  • Pediatric FSHD-COM [ Time Frame: Baseline-2 years ]
  • Reachable Work Space [ Time Frame: Baseline-2 years ]

Central Contacts and Locations

Central contacts

Michaela Walker, MPH

913-945-9920mwalker20@kumc.edu

Rebecca Clay, BS

9139459936rclay@kumc.edu

Locations

University of Kansas Medical Center

Recruiting

Kansas City, Kansas, United States, 66160

Contacts

Michaela Walker, MPH

913-945-9920mwalker20@kumc.edu

Rebecca Clay

913-945-9936rclay@kumc.edu

University of Rochester

Recruiting

Rochester, New York, United States, 14642

Contacts

Leann Lewis, MsGC

585-275-7680Leann_Lewis@URMC.Rochester.edu

Marisa Severino

585-274-0271Marisa_Severino@URMC.Rochester.edu

Principal Investigator:

Katy Eichinger, DPT, PhD

Duke University

Recruiting

Durham, North Carolina, United States, 27708

Contacts

Randy Smith, MPH

919-684-1586randy.s.smith@duke.edu

Stephanie Thera

stephanie.thera@duke.edu

Principal Investigator:

Natalie Katz, MD, PhD

More Information

Sponsor

University of Kansas Medical Center

Last update posted

Feb 25, 2026

Last verified

Feb, 2026

Keywords

  • FSHD
  • Pediatric

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by University of Kansas Medical Center on 2026-02-25.