Testing EPI-321 for Facioscapulohumeral Muscular Dystrophy

A Phase 1/2 Open-label Dose-escalation Study to Evaluate the Safety, Tolerability, and Biological Activity of EPI-321, an AAVrh74-delivered Epigenetic Editing Therapy in Adult FSHD Patients

This study is testing a new gene therapy called EPI-321 to see if it is safe and can help adults with facioscapulohumeral muscular dystrophy feel better.

Quick facts

• Phase: PHASE1; PHASE2
• Study type: Interventional
• Enrollment: 12 (estimated)
• Ages: 18 Years to 75 Years
• Sex: All
• Sponsor: Epicrispr Biotechnologies, Inc. (industry)
• Locations: 7 sites (Los Angeles, California and 6 other locations)
• Trial ID: NCT06907875 on ClinicalTrials.gov

What this trial studies

This clinical trial aims to evaluate the safety and tolerability of EPI-321, an investigational gene therapy, in adults with facioscapulohumeral muscular dystrophy (FSHD) Type 1. Participants will receive a single intravenous dose of EPI-321 and will be monitored closely in a hospital setting, followed by regular clinic visits for up to five years. The study will also assess early signs of efficacy by measuring muscle function and other disease markers over time. The trial is designed as an open-label, dose-ascending study to determine the optimal dose for future trials.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18 to 75 with a clinical diagnosis of FSHD Type 1 and a severity score of 2 to 4.

Not a fit: Patients with FSHD Type 2, those requiring a walker or wheelchair for ambulation, or those with significant comorbidities may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could provide a new therapeutic option that targets the underlying cause of FSHD, potentially improving muscle function and quality of life for patients.

How similar studies have performed: While gene therapies for muscular dystrophies are being explored, this specific approach using EPI-321 is novel and has not been previously tested in humans.

Eligibility criteria

Inclusion Criteria:

* Able and willing to provide informed consent
* Male or female 18 to 75 years of age
* Clinical diagnosis of FSHD with genetic Type 1
* FSHD Ricci clinical severity score 2 to 4 (on 5-point scale)
* Has adequate liver function
* Has adequate kidney function

Exclusion Criteria:

* Has an anti-AAVrh74 total binding antibody titer \> 1:400
* Requires a walker or wheelchair for ambulation
* Pregnant and/or breastfeeding at baseline or is planning to become pregnant during the first 12 months following EPI-321 administration
* Has FSHD Type 2
* Has a concurrent or past medical conditions could jeopardize the safety of the participant

Where this trial is running

Los Angeles, California and 6 other locations

• David Geffen School of Medicine at University of California, Los Angeles — Los Angeles, California, United States (RECRUITING)
• Rare Disease Research — Atlanta, Georgia, United States (RECRUITING)
• Kennedy Krieger Institute, Center for Genetic Muscle Disorders — Baltimore, Maryland, United States (RECRUITING)
• University of Massachusetts Chan Medical School — Worcester, Massachusetts, United States (RECRUITING)
• Utah Program for Inherited Neuromuscular Disorders - University of Utah — Salt Lake City, Utah, United States (RECRUITING)
• Royal Alfred Hospital — Sydney, New South Wales, Australia (RECRUITING)
• Pacific Clinical Research Network — Auckland, New Zealand (RECRUITING)

Study contacts

• Study coordinator: Weston Miller, M.D.

Conditions: Facioscapulohumeral Muscular Dystrophy, EPI-321, Muscular Dystrophy