An observational study in Facioscapulohumeral Muscular Dystrophy, sponsored by University of Kansas Medical Center. Active, not recruiting at 14 sites in 6 countries. Open to participants aged 18 Years to 75 Years. Per ClinicalTrials.gov, last updated 2026-09-17.
Sponsored by University of Kansas Medical Center · Observational
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Among 32 studies in Muscular Dystrophy, Facioscapulohumeral with a site in United States — 8 open to participants now, 13 under way, 1 of them phase 3. Muscular Dystrophy, Facioscapulohumeral · United States.
Among the 32 studies in Muscular Dystrophy, Facioscapulohumeral with a site in United States, this one is the 5th largest by enrollment of the 11 observational ones that give a count, is the only one that started in 2018, is one of 11 observational ones, reaches primary completion later than 3 of the 12 other live ones, and was the 15th registered.
79 studies on the registry are indexed under Muscular Dystrophy, Facioscapulohumeral; 26 are open to participants now.
Browse Muscular Dystrophy, Facioscapulohumeral studies →8 of the 32 studies in Muscular Dystrophy, Facioscapulohumeral with a site in United States are open now. Recruiting first, the newest first:
Scholar Rock, Inc. · Sites in United States
Ages 18–60
Restem, LLC. · Sites in United States
Ages 15+
Jeffrey Statland · Sites in United States
Ages 18–75
Avidity Biosciences, Inc. · Sites in United States, Canada, Denmark and 7 more countries
Ages 16–70
University of Kansas Medical Center · Sites in United States, Australia
Ages 5–17
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 19 Muscular Dystrophy, Facioscapulohumeral studies recruiting now, 9 (47%) set no upper age limit and 9 (47%) stop at 75 or younger; 10 take children under 18; 6 take healthy volunteers.
This study: 18 Years to 75 Years · all sexes · no healthy volunteers.
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32 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 11 · Phase 2 15 · Phase 3 2
First in 2000; this study’s year is marked. 1 started in 2018.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 324 is above the median of 87 across 30 observational studies indexed under Muscular Dystrophy, Facioscapulohumeral.
Median enrollment 51 across the 21 interventional studies, 94 across the 11 observational. Of the 19 that completed or were terminated, 12 (63%) have results posted.
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19 of 32 have an industry lead sponsor. The 10 most frequent:
University of Kansas Medical Center is the lead sponsor of 492 studies on the registry; 110 are open to participants now.
Of its 38 completed or terminated interventional studies of FDA-regulated products, 24 (63%) have results posted.
University of Kansas Medical Center has 3 studies filed under Muscular Dystrophy, Facioscapulohumeral — fewer than ten, so there is no comparison to draw.
3 of the studies in Muscular Dystrophy, Facioscapulohumeral with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06847282University of Kansas Medical CenterMotor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds) | 2027-05 |
| NCT05019625Massachusetts General HospitalBiomarker Development for Muscular Dystrophies | 2027-06 |
| NCT06907875Epicrispr Biotechnologies, Inc.A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy | 2027-07-07 |
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Among the 32 studies in Muscular Dystrophy, Facioscapulohumeral with a site in United States, from their registry updates:
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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 (FSHD-COM and EIM) and optimize eligibility criteria by testing 320 patients across 14 international sites over a period of 24 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 (FSHD-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, 24 months study of 320 subjects.
Participants with FSHD that are seen in the researchers clinic.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
All participants will be asked to undergo FSHD-specific functional rating scale tests and procedures and Electrical Impedance Myography.
Diagnostic Test: FSHD-specific functional rating scale · Device: Electrical Impedance Myography
The FSHD-COM is composed of disease-relevant functional tasks such as leg function; shoulder and arm function; trunk function, hand function, and balance.
Also known as: FSHD-COM
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.
Also known as: EIM
FSHD composite (FSHD-COM)
The FSHD composite (FSHD-COM) is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.
Time frame: 24 Months
Electrical Impedance Myography (EIM)
EIM is administered using an investigational device manufactured by Skulpt, Inc (Boston, MA) that non-invasively measures the impedance of skeletal muscle over a frequency range between 1 kHz and 10 MHz (Figure 2). The impedance is measured at each frequency by applying low-intensity electrical current (\<1 mA) via surface electrodes and measuring the resulting voltage signals using a second set of surface electrodes, converting them into 2 impedance parameters, the resistance and the reactance.
Time frame: 24 Months
Motor Function Measure (MFM) Domain 1
The MFM domain 1 is a validated evaluator administered functional measure for neuromuscular disorders, with 13 items related to standing and transfers.
Time frame: 24 Months
Facial Function
The Iowa Oral Performance Instrument (IOPI) is a means to quantify lip, tongue, and buccal strength using a validated tool with published ranges for normative data for lingual measurements.
Time frame: 24 Months
Reachable Workspace (RWS)
Subjects are seated in front of a 3D camera and asked to perform a standardized upper extremity movement protocol under the supervision of a study clinical evaluator.
Time frame: 24 Months
Manual Muscle Testing (MMT)
Strength testing will be performed using manual muscle testing (MMT) using a hand held force dynamometer.
Time frame: 24 Months
Force Vital Capacity (FVC)
The researchers will obtain bedside spirometry including forced vital capacity and forced expiratory volume in 1 second.
Time frame: 24 Months
Maximum Inspiratory Pressure (MIP) and Maximum Expiratory Pressure (MEP)
The researchers will obtain maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using bedside spirometry.
Time frame: 24 Months
Whole body and regional lean muscle mass (LMM)
Whole body and regional lean muscle mass (LMM) will be measured via Dual Energy X-Ray Absorptiometry (DEXA).
Time frame: 24 Months
Severity Scores
A limited physical exam and strength testing will be used to derive two FSHD clinical severity scores. These severity scores both rank weakness in the face, shoulders, arms, distal, and proximal lower extremities on either a 10 or 15 point scale.
Time frame: 24 Months
FSHD-Health Index (FSHD-HI)
The HI is a 15 domain questionnaire designed and based on patient interviews to measure total FSHD health-related quality-of-life, including both motor impairment and the social and emotional impact of FSHD. 116 questions are combined into a total score, the score is transformed onto a percentage scale, with 100 representing maximal disability, and lower scores representing decreasing disability.
Time frame: 24 Months
Patient-Reported Outcomes Measurement Information System-57 (PROMIS57)
The PROMIS57 is an instrument developed by the NIH which generates scores for physical function, and the impact of physical limitations on daily life. 57 questions are summed into a total score, which is transformed into a normalized t-score with 50 representing normal, and lower scores representing increasing disability.
Time frame: 24 Months
The Upper Extremity Functional Index
This index measures upper extremity dysfunction. 20 questions are combined into a total score, the score is transformed into a normalized score with 80 representing normal, and lower scores representing increasing disability.
Time frame: 24 Months
The Facial Disability Index (FDI)
The FDI is a short 5 item questionnaire. The five questions are summed into total score which transformed onto a percentage scale, with 100 representing normal, and lower scores representing increasing disability.
Time frame: 24 Months
Fall assessment
Fall assessment will be completed weekly for 3 months after the month 3 visit.
Time frame: Total between Month 3 and Month 6 Visit
Domain Delta Anchor
Participants will be asked to complete a self-assessment "domain-delta" questionnaire at 3, 12, 18 and 24-month visits. The purpose of the "domain-delta" questionnaire is to determine each patient's perceived change in their health-related quality-of-life in the last 6-months. This questionnaire will inquire about total health as well as health related to 14 subdomains self-identified as important by patients during development of the FSHD Health Index. Participants indicate their perceived change by answering if an area "is a lot worse", "is a little worse", "there has been no change", "it is a little better", or "it is a lot better" for each subdomain.
Time frame: 24 Months
Quantitative myometry (QMA)
Force will be measured on digital myometer, in KG-force.
Time frame: 24 Months
Muscle Biopsy
Will be performed on 30 subjects at European and United Kingdom sites only. Participants will undergo one needle muscle biopsy of one lower extremity muscle (Vastus Lateralis (VL), Tibialis Anterior (TA), Medial Gastrocnemius (MG), or Lateral Gastrocnemius (LG)) at any study visit. For each biopsy, approximately three muscle tissue samples will be collected, two samples will be individually flash frozen in liquid nitrogen while the third sample will be put into media for myoblast cell cultures.
Time frame: 24 Months
Blood biomarkers
DNA and RNA will be collected at Baseline and 3-month visits. Plasma and serum samples will be collected at every visit (Baseline, 3, 12, 18, and 24-months).
Time frame: 24-Months
Plan to share: Undecided
Started Mar 2018 (actual). Primary completion is estimated for Dec 2027, 117 months after the start.
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This study is active, not recruiting, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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Muscular Dystrophy, Facioscapulohumeral →
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