A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy
Trial statusRecruiting
Trial phasePhase 1, Phase 2
Trial typeInterventional
Biological sexAll
Age18-75
SponsorEpicrispr Biotechnologies, Inc.
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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)
Disqualifiers
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
Trial design
Design model
Sequential
Treatments tested in this trial
EPI-321
Biological/VaccineEPI-321 IV Infusion
Treatment groups
12 Participants
are divided into 2 treatment groupsGroup A: EPI-321 Cohort 1 Single IV DoseExperimental treatment 1 intervention
Group B: EPI-321 Cohort 2 Single IV DoseExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Frequency of AEs and EPI-321 Related Adverse Reactions and Serious Adverse Reactions
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.
Time frame
Baseline to up to 5 years.Secondary outcomes
1
Vector Copy Number
Change in vector copy number (as measured by vg/dg) within skeletal muscle biopsies.
Time frame
Baseline, 3 and 12 months2
EPI-321 Cargo Transcriptional Activity
Change in EPI-321 cargo transcriptional activity within skeletal muscle biopsies.
Time frame
Baseline, 3 and 12 months3
DUX4 Expression
Change in the expression of DUX4 and downstream markers (DUX4 Composite Score) within skeletal muscle biopsies.
Time frame
Baseline, 3 and 12 months4
Methylation Status
Change from baseline in the methylation status of the 4q35 D4Z4 region within skeletal muscle biopsies at 3 and 12 months.
Time frame
Baseline, 3 and 12 monthsSponsors and contacts
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Source ClinicalTrials.gov