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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT06907875
Registration number
NCT06907875
Ethics application status
Date submitted
26/03/2025
Date registered
2/04/2025
Date last updated
11/07/2025
Titles & IDs
Public title
A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy
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Scientific title
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
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Secondary ID [1]
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EPI-321-02
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Universal Trial Number (UTN)
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Trial acronym
FSHD
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Facioscapulohumeral Muscular Dystrophy
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Condition category
Condition code
Musculoskeletal
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Other muscular and skeletal disorders
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Neurological
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Other neurological disorders
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Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Intervention/exposure
Study type
Interventional
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Description of intervention(s) / exposure
Treatment: Other - EPI-321
Experimental: EPI-321 Cohort 1 Single IV Dose - Single IV infusion of a target dose of 2x10\^13 vg/kg
Experimental: EPI-321 Cohort 2 Single IV Dose - Single IV infusion of a target dose of 4x10\^13 vg/kg
Treatment: Other: EPI-321
EPI-321 IV Infusion
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Intervention code [1]
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Treatment: Other
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Frequency of AEs and EPI-321 Related Adverse Reactions and Serious Adverse Reactions
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Assessment method [1]
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All AEs, regardless of assessed relatedness to EPI-321, will be collected from the time of informed consent signature until the end of study participation. The Investigator is responsible for assessing the severity of an AE according to the NCI-CTCAE version 5.0.
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Timepoint [1]
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Baseline to up to 5 years.
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Secondary outcome [1]
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Vector Copy Number
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Assessment method [1]
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Change in vector copy number (as measured by vg/dg) within skeletal muscle biopsies.
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Timepoint [1]
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Baseline, 3 and 12 months
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Secondary outcome [2]
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EPI-321 Cargo Transcriptional Activity
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Assessment method [2]
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Change in EPI-321 cargo transcriptional activity within skeletal muscle biopsies.
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Timepoint [2]
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Baseline, 3 and 12 months
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Secondary outcome [3]
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DUX4 Expression
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Assessment method [3]
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Change in the expression of DUX4 and downstream markers (DUX4 Composite Score) within skeletal muscle biopsies.
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Timepoint [3]
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Baseline, 3 and 12 months
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Secondary outcome [4]
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Methylation Status
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Assessment method [4]
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Change from baseline in the methylation status of the 4q35 D4Z4 region within skeletal muscle biopsies at 3 and 12 months.
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Timepoint [4]
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Baseline, 3 and 12 months
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Eligibility
Key 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
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Minimum age
18
Years
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Maximum age
75
Years
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key 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
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Study design
Purpose of the study
Treatment
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Allocation to intervention
Non-randomised trial
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Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
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Methods used to generate the sequence in which subjects will be randomised (sequence generation)
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Masking / blinding
Open (masking not used)
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Who is / are masked / blinded?
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Intervention assignment
Other
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Other design features
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Phase
Phase 1
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Type of endpoint/s
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
8/05/2025
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
30/04/2032
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Actual
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Sample size
Target
9
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
NSW
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Recruitment hospital [1]
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Royal Alfred Hospital - Sydney
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Recruitment postcode(s) [1]
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2050 - Sydney
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Recruitment outside Australia
Country [1]
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United States of America
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State/province [1]
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Georgia
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Country [2]
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New Zealand
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State/province [2]
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Auckland
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Funding & Sponsors
Primary sponsor type
Commercial sector/industry
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Name
Epicrispr Biotechnologies, Inc.
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Address
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Country
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Ethics approval
Ethics application status
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Summary
Brief summary
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.
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Trial website
https://clinicaltrials.gov/study/NCT06907875
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Address
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Weston Miller, M.D.
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Address
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Country
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Phone
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888-562-4123
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Fax
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Email
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[email protected]
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Contact person for scientific queries
Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No
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No/undecided IPD sharing reason/comment
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What supporting documents are/will be available?
No Supporting Document Provided
Results publications and other study-related documents
No documents have been uploaded by study researchers.
Results not provided in
https://clinicaltrials.gov/study/NCT06907875
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