Overview

PBA Use for Treatment of ATF6-/- Patients

Status:
Not yet recruiting

Trial end date:
2022-03-01

Target enrollment:
0

Participant gender:
All

Summary

Some patients with achromatopsia, an inherited disorder characterized by partial or complete loss of color vision, carry mutations in ATF6. ATF6 is a gene that is responsible for coding a protein that acts in response to endoplasmic reticulum (ER) stress. When the ATF6 protein is mutated, retinal function decreases, contributing to color blindness. The study aims to investigate whether an already FDA-approved drug, glycerol phenylbutyrate (PBA), can improve retinal function inpatients with achromatopsia caused by ATF6 mutations. Patients will be instructed to take three doses of PBA per day at equally divided time intervals and rounded up to the nearest 0.5 mL. The total dose of PBA will be 4.5 to 11.2 mL/m2/day (5 to 12.4 g/m2/day) and will not exceed 17.5 mL/day (19 g/day). Their condition will be monitored over the course of a minimum of 3 clinic visits that will consist of a number of retinal function tests, fundus examinations, and imaging procedures. Findings from the study could elucidate the potential for PBA to serve as a treatment for patients with ATF6-mediated a chromatopsia.

Phase:

Early Phase 1

Accepts Healthy Volunteers?

Details

Lead Sponsor:

Columbia University

Treatments:

4-phenylbutyric acid
Glycerol

Criteria

Inclusion Criteria:

- Patients harboring mutations in ATF6 present with decreased retinal function

Exclusion Criteria:

- Patients who are minors

- Patients who are pregnant