Collecting motor and functional outcomes in patients with FSHD

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to gather motor and functional outcomes specific to Facioscapulohumeral Muscular Dystrophy (FSHD) over a minimum of three years. Approximately 450 participants with genetically confirmed or clinically diagnosed FSHD will be followed to better understand how the condition affects motor function and other health outcomes, such as breathing and wheelchair use. A subset of 200 participants will also engage in additional assessments, including whole body MRI and optional muscle biopsy, to enhance the understanding of FSHD's impact on health.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Genetically confirmed FSHD (types 1 or 2) or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring.

Exclusion Criteria:

* Unwilling or unable to provide informed consent.
* Any other medical condition which in the opinion of the investigator would interfere with study participation.

Where it's running

• David Geffen School of Medicine at UCLA
  Los Angeles, California, United States Recruiting
• Neuromuscular Disorders Program at Stanford University School of Medicine
  Stanford, California, United States Recruiting
• University of Colorado Anschutz Medical Campus
  Aurora, Colorado, United States Recruiting
• Univeristy of Florida Gainesville
  Gainesville, Florida, United States Recruiting
• University of Iowa
  Iowa City, Iowa, United States Recruiting
• Univeristy of Kansas Medical Center
  Kansas City, Kansas, United States Recruiting

Study contacts

• Principal investigator: Jeffrey Statland, MD — University of Kansas Medical Center
• Study coordinator: Michaela Walker, MPH
• Email: mwalker20@kumc.edu
• Phone: 913-945-9920

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Apitegromab for FSHD in Adults (Phase 2)

  This study tests whether apitegromab works as a standalone treatment for adults with FSHD.

  Recruiting Phase 2 Scholar Rock, Inc. · Austin, Texas · NCT07435129

• BetterLife FSHD: a patient-driven health platform

  This project tries to connect people with FSHD to personalized resources and collect their health experiences so they can be matched to relevant studies and help improve care.

  Recruiting FSHD Society · Randolph, Massachusetts · NCT07409142

• Del-brax (AOC 1020) intravenous treatment for people with FSHD

  This study will try regular IV infusions of del-brax (AOC 1020) in adults with FSHD to see if it slows muscle weakness and helps preserve walking ability.

  Recruiting at 28 sites Phase 3 Avidity Biosciences, Inc. · Orange, California and 45 other locations · NCT07038200

• Umbilical cord lining stem cell treatment for FSHD

  This trial will try two intravenous doses of umbilical cord lining–derived stem cells (ULSC) versus placebo to see if they are safe and help people aged 15+ with genetically confirmed FSHD and moderate disease (Ricci score ≥3).

  Recruiting Phase 1 Restem, LLC. · Palo Alto, California · NCT07086521

• Long-term follow-up of patients with facioscapulohumeral muscular dystrophy

  This study follows 200 people with facioscapulohumeral muscular dystrophy for ten years to see how the disease changes over time and to find better ways to treat it.

  Recruiting Radboud University Medical Center · Nijmegen · NCT06911190

• Safety and early efficacy test of SFL-0821 in adults with FSHD

  This study will test whether SFL-0821 is safe and tolerable and whether it shows early signs of benefit in adults with Facioscapulohumeral Muscular Dystrophy (FSHD).

  Recruiting at 3 sites Phase 1/2 Soufflé Therapeutics, Inc. · Concord, New South Wales and 5 other locations · NCT07798609

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.