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
Epicrispr Biotechnologies, Inc.
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.
Description
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…
Eligibility
- Age range
- 18–75 years
- Sex
- All
- Healthy volunteers
- No
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 medica…
Interventions
- BiologicalEPI-321
EPI-321 IV Infusion
Locations (7)
- David Geffen School of Medicine at University of California, Los AngelesLos Angeles, California
- Rare Disease ResearchAtlanta, Georgia
- Kennedy Krieger Institute, Center for Genetic Muscle DisordersBaltimore, Maryland
- University of Massachusetts Chan Medical SchoolWorcester, Massachusetts
- Utah Program for Inherited Neuromuscular Disorders - University of UtahSalt Lake City, Utah
- Royal Alfred HospitalSydney, New South Wales