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A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy

NCT ID: NCT06907875

Last Updated: 2025-11-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

9 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-05-08

Study Completion Date

2032-04-30

Brief Summary

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The goal of this clinical trial is to learn how safe and tolerable EPI-321 is and whether there may be early signs it is working in male or female adult (18 to 75 years) participants with facioscapulohumeral muscular dystrophy (FSHD) Type 1 condition. The main questions it aims to answer are:

How safe is EPI-321 and how well can people handle it over time? How does EPI-321 interact with its target and does it show early signs of working?

Participants will receive a single dose of EPI-321 through a vein while being closely watched in a hospital and visit the clinic regularly for tests and checkups for about 5 years after getting EPI-321.

Detailed Description

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EPI-321 is an investigational drug product comprising a recombinant adeno-associated viral vector, serotype rh74 (AAVrh74), for the delivery of genetic material encoding an epigenetic editor designed to address the root case of FSHD. AAVrh74 has been shown to transduce human skeletal muscle efficiently in the clinical experience. EPI-321's transgene product, a non-cutting, nuclease-dead mini, clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein (dCasONYX) with fuse epigenetic modulators, is designed to selectively bind the D4Z4 repeat region via the accompanying guide RNA, methylate CpG groups within the region near the DUX4 gene on chromosome 4q35, and thus repress the expression of toxic DUX4 protein, ameliorating the downstream pathology that drives FSHD. As it is under a muscle-specific promoter, the dCasONYX-fused protein is expected to be preferentially and actively expressed in muscle tissue following a single intravenous (IV) dose.

EPI-321-02 clinical trial is an open label dose ascending study of EPI-321 for safety and tolerability to determine the best dose for a future trial of drug activity. Two dose levels will be evaluated. In addition, this study will collect secondary outcome data on muscle function, imaging characteristics, and other markers of disease activity at the baseline and throughout the study to assess their utility as measures of drug activity in a future clinical trial.

Conditions

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Facioscapulohumeral Muscular Dystrophy

Keywords

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Facioscapulohumeral Muscular Dystrophy EPI-321 Muscular Dystrophy

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SEQUENTIAL

Dose escalation with two dose levels
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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EPI-321 Cohort 1 Single IV Dose

Single IV infusion of a target dose of 2x10\^13 vg/kg

Group Type EXPERIMENTAL

EPI-321

Intervention Type BIOLOGICAL

EPI-321 IV Infusion

EPI-321 Cohort 2 Single IV Dose

Single IV infusion of a target dose of 4x10\^13 vg/kg

Group Type EXPERIMENTAL

EPI-321

Intervention Type BIOLOGICAL

EPI-321 IV Infusion

Interventions

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EPI-321

EPI-321 IV Infusion

Intervention Type BIOLOGICAL

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Epicrispr Biotechnologies, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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David Geffen School of Medicine at University of California, Los Angeles

Los Angeles, California, United States

Site Status RECRUITING

Rare Disease Research

Atlanta, Georgia, United States

Site Status RECRUITING

University of Massachusetts Chan Medical School

Worcester, Massachusetts, United States

Site Status NOT_YET_RECRUITING

Utah Program for Inherited Neuromuscular Disorders - University of Utah

Salt Lake City, Utah, United States

Site Status NOT_YET_RECRUITING

Royal Alfred Hospital

Sydney, New South Wales, Australia

Site Status NOT_YET_RECRUITING

Pacific Clinical Research Network

Auckland, , New Zealand

Site Status RECRUITING

Countries

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United States Australia New Zealand

Central Contacts

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Weston Miller, M.D.

Role: CONTACT

Phone: 888-562-4123

Email: [email protected]

Facility Contacts

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Brenden Roberts

Role: primary

Laura Sutton

Role: primary

Catherine Douthwright

Role: primary

Role: backup

Stacie Stauffer

Role: primary

Sasan Mortazavi

Role: primary

Miles Kenny

Role: backup

Miriam Rodrigues

Role: primary

Other Identifiers

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EPI-321-02

Identifier Type: -

Identifier Source: org_study_id