Actively Recruiting
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
Led by Epicrispr Biotechnologies, Inc. · Updated on 2026-04-22
12
Participants Needed
7
Research Sites
56 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating the safety, tolerability, and early signs of activity of EPI-321 in adults aged 18 to 75 with facioscapulohumeral muscular dystrophy (FSHD) Type 1. This open-label, dose-escalation study aims to understand how well participants handle EPI-321 and how it interacts with its target to possibly reduce disease activity. The investigational drug uses a viral vector to deliver a genetic editor designed to silence a harmful protein involved in FSHD. Participants will receive a single intravenous infusion of EPI-321 at one of two dose levels: 2x10^13 or 4x10^13 vector genomes per kilogram. The study will monitor participants closely for safety and tolerability, while also collecting data on muscle function, imaging, and other markers of disease activity. The trial includes a dose-escalation phase to determine the best dose for future studies. During the study, participants will be observed in the hospital during the infusion and will have regular clinic visits for tests and assessments over approximately five years. Researchers will track adverse events and specific biological markers at baseline, 3 months, and 12 months to evaluate EPI-321's activity. Long-term follow-up will help assess safety and biological effects over time.
CONDITIONS
Brief Title
A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Able and willing to provide informed consent
- Male or female aged 18 to 75 years
- Clinical diagnosis of FSHD with genetic Type 1
- FSHD Ricci clinical severity score between 2 and 4 on a 5-point scale
- Adequate liver function
- Adequate kidney function
You will not qualify if you...
- Anti-AAVrh74 total binding antibody titer greater than 1:400
- Requires a walker or wheelchair for mobility
- Pregnant or breastfeeding at baseline or planning pregnancy within 12 months after EPI-321 administration
- Diagnosis of FSHD Type 2
- Medical conditions that could jeopardize participant safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Single dose with follow-up to 12 months
Participants receive a single intravenous (IV) infusion of EPI-321 at one of two dose levels to evaluate safety and tolerability.
Baseline visit for infusion and follow-up visits at 3 and 12 months
Duration - Up to 5 years
Participants are monitored for safety and biological activity of EPI-321, including muscle function, imaging, and other markers of disease activity.
Periodic follow-up visits over 5 years
Trial Site Locations
Total: 7 locations
1
David Geffen School of Medicine at University of California, Los Angeles
Los Angeles, California, United States, 90095
Actively Recruiting
2
Rare Disease Research
Atlanta, Georgia, United States, 303329
Actively Recruiting
3
Kennedy Krieger Institute, Center for Genetic Muscle Disorders
Baltimore, Maryland, United States, 21205
Actively Recruiting
4
University of Massachusetts Chan Medical School
Worcester, Massachusetts, United States, 01605
Actively Recruiting
5
Utah Program for Inherited Neuromuscular Disorders - University of Utah
Salt Lake City, Utah, United States, 84112
Actively Recruiting
6
Royal Alfred Hospital
Sydney, New South Wales, Australia, 2050
Actively Recruiting
7
Pacific Clinical Research Network
Auckland, New Zealand, 0622
Actively Recruiting
Research Team
W
Weston Miller, M.D.
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
2
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