The primary goal of this study is to validate motor and functional outcomes and refine clinical trial strategies for pediatric-onset FSHD
Eligibility
Sex
ALL
Min age
5 Years
Max age
17 Years
Healthy volunteers
No
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
Primary outcome measure(s)
Pediatric FSHD-COM — Baseline-2 years Investigators will collect the FSH-Composite outcome measure for children and adolescents. This measure assesses multiple body regions identified as important by patients, including leg function, shoulder and arm function, trunk function, hand function, and functional balance. The FSHD-COM Peds has been modified to include lighter weights for shoulder abduction and flexion, as well as elbow flexion, to accommodate the motor development and lower strength levels seen in children. Although the FSHD-COM Peds involves different measurements for each body region, these measurements are combined to produce a single composite score. The total score for the FSHD-COM Peds is out of 84, representing one comprehensive outcome measure
Reachable Work Space — Baseline-2 years Subjects are seated in front of a stereo-camera and perform a standardized upper extremity movement protocol under the supervision of a study clinical evaluator. Five-hundred-gram wrist weights will be added. The standardized simple set of movements consist of lifting the arm from the resting position to above the head while keeping the elbow extended, performing the same movement in vertical planes at around 0, 45, 90, 135 degrees. The second set of movements consists of horizontal sweeps at the level of the umbilicus and shoulder.
Trial sites (7)
Facility
City
Region
Status
Stanford University
Palo Alto
California
Not Yet Recruiting
University of Iowa
Iowa City
Iowa
Not Yet Recruiting
University of Kansas Medical Center
Kansas City
Kansas
Recruiting
University of Rochester
Rochester
New York
Recruiting
Duke University
Durham
North Carolina
Recruiting
University of Utah
Salt Lake City
Utah
Not Yet Recruiting
Murdoch Children's Research Institute
Melbourne
Australia
Recruiting
More University of Kansas Medical Center trials in Australia
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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