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

About

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.

Primary Purpose

Treatment

Study Type

Interventional

Phase

Phase 1/Phase 2

Eligibility

Gender

All

Healthy Volunteers

No

Minimum Age

18 Years

Maximum Age

75 Years

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

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