PBA for Achromatopsia

Phase-Based Progress Estimates
Achromatopsia+2 More
PBA - Drug
All Sexes
What conditions do you have?

Study Summary

This trial will study whether the drug glycerol phenylbutyrate can improve retinal function in patients with achromatopsia caused by ATF6 mutations.

Eligible Conditions
  • Achromatopsia

Treatment Effectiveness

Study Objectives

6 Primary · 3 Secondary · Reporting Duration: Baseline, 1 month, 3 months, 6 months post-PBA use

Month 6
Changes in Full-field Electroretinogram (ffERG) X
Changes in anterior segment
Changes in retinal imaging
Changes observed in posterior segment (slit lamp and binocular fundus examination)
Month 6
Changes in best corrected visual acuity (BCVA)
Changes in color vision
Changes in contrast sensitivity
Changes in intraocular pressure
Changes in macular sensitivity

Trial Safety

Side Effects for

5%Dry Eye
5%Eye Discharge
5%Eye Irritation
This histogram enumerates side effects from a completed 2015 Phase 4 trial (NCT02117687) in the VISMED® Multi ARM group. Side effects include: Dry Eye with 5%, Eye Discharge with 5%, Eye Irritation with 5%, Pericarditis with 3%.

Trial Design

1 Treatment Group

PBA treatment of ATF6-/- Achromatopsia
1 of 1

Experimental Treatment

2 Total Participants · 1 Treatment Group

Primary Treatment: PBA · No Placebo Group · Phase < 1

PBA treatment of ATF6-/- Achromatopsia
Experimental Group · 1 Intervention: PBA · Intervention Types: Drug

Trial Logistics

Trial Timeline

Screening: ~3 weeks
Treatment: Varies
Reporting: baseline, 1 month, 3 months, 6 months post-pba use

Who is running the clinical trial?

Columbia UniversityLead Sponsor
1,282 Previous Clinical Trials
1,613,072 Total Patients Enrolled
Stephen Tsang, MDPrincipal InvestigatorProfessor of Ophthalmology and Professor of Pathology and Cell Biology

Eligibility Criteria

Age 18+ · All Participants · 1 Total Inclusion Criteria

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About The Reviewer

Michael Gill preview

Michael Gill - B. Sc.

First Published: October 1st, 2021

Last Reviewed: November 12th, 2022

Michael Gill holds a Bachelors of Science in Integrated Science and Mathematics from McMaster University. During his degree he devoted considerable time modeling the pharmacodynamics of promising drug candidates. Since then, he has leveraged this knowledge of the investigational new drug ecosystem to help his father navigate clinical trials for multiple myeloma, an experience which prompted him to co-found Power Life Sciences: a company that helps patients access randomized controlled trials.