PBA for Color Blindness

Overseen By Laura Jenny

Age: 18+

Sex: Any

Trial Phase: Phase < 1

Sponsor: Columbia University

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 4

Duration: 3 months

2 Participants Needed

Trial Summary

What is the purpose of this trial?

This trial investigates whether the drug PBA can improve vision in patients with a specific type of color blindness caused by a genetic mutation. PBA helps proteins fold correctly, which may reduce stress in retinal cells and enhance their function. PBA, a U.S. Food and Drug Administration-approved safe oral medication, has shown potential in improving cone-mediated vision in mouse models of retinal dystrophies.

Do I need to stop my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

How does the treatment PBA for color blindness differ from other treatments?

The treatment PBA for color blindness is unique because there are currently no standard treatments available for this condition, making it a novel approach in addressing color vision deficiency. ^{1 2 3 4 5}

Research Team

Stephen Tsang, MD

Principal Investigator

Columbia University

Eligibility Criteria

This trial is for adults with achromatopsia, a form of color blindness due to ATF6 gene mutations. Participants must have decreased retinal function but cannot be minors or pregnant.

Inclusion Criteria

My vision is impaired due to a genetic mutation.

Exclusion Criteria

Patients who are pregnant

I am under the legal adult age.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive glycerol phenylbutyrate (PBA) with monitoring at baseline, 1 month, and 3 months

3 months

3 visits (in-person)

Follow-up

Participants are monitored for safety and effectiveness after treatment, with an additional evaluation if improvement is observed

3 months

1 visit (in-person) if improvement is observed

Treatment Details

Interventions

• PBA

Trial Overview The study tests if glycerol phenylbutyrate (PBA), an FDA-approved drug, can improve vision in patients with color blindness caused by ATF6 mutations. Patients will take PBA three times daily and undergo regular eye exams.

Participant Groups

Group I: PBA treatment of ATF6-/- Achromatopsia Experimental Treatment 1 Intervention

Patients will be monitored at the baseline visit, followed by a second and third visit that will be 1 and 3 months after the initial visit. Patients will complete a standard visual functioning questionnaire and undergo a complete ophthalmic evaluation at each visit. Other visual assessments will consist of color vision testing, contrast sensitivity, retinal imaging, and macular sensitivity testing using microperimetry. Full-field electroretinogram will also be performed at the baseline visit and after 1 and 3 months of PBA use. If improvement in retinal function is observed, an additional ophthalmic evaluation will be conducted after 6 months of PBA use. A blood draw will be performed at each visit to test for any indications of adverse effects from drug use.

Who Is Running the Clinical Trial?

Columbia University

Lead Sponsor

Trials

1,529

Recruited

2,832,000+

References

1. India pubmed.ncbi.nlm.nih.gov

Fitness to Work Assessment for Oil Palm Fruits Harvest Workers Diagnosed with Color Blindness using Color Blind Test Media Based on the Color of Oil Palm Fruit. [2023]

2. Japan pubmed.ncbi.nlm.nih.gov

[Congenital color vision deficiencies as a social problem]. [2015]

3. England pubmed.ncbi.nlm.nih.gov

A review of color blindness for microscopists: guidelines and tools for accommodating and coping with color vision deficiency. [2015]

4. United States pubmed.ncbi.nlm.nih.gov

Seeing science in color. [2007]

5. Nepal pubmed.ncbi.nlm.nih.gov

Color vision deficiency among a group of students of health sciences. [2022]