PBA for Color Blindness

Not currently recruiting at 1 trial location

Overseen By Laura Jenny

Age: 18+

Sex: Any

Trial Phase: Phase < 1

Sponsor: Columbia University

Must be taking: Glycerol phenylbutyrate

Disqualifiers: Minors, Pregnant, others

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

Compensation: Varies

Number of Visits: 4

Duration: 3 months

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to determine if an existing drug, glycerol phenylbutyrate (PBA), can improve vision in individuals with color blindness linked to ATF6 gene mutations. The focus is on those with retinal issues affecting color perception. Participants will take PBA three times daily, and doctors will assess their vision at least three times during the study. This trial suits individuals with this specific genetic cause of color blindness and reduced retinal function. As an Early Phase 1 trial, the research seeks to understand how the treatment works in people, offering participants a chance to contribute to groundbreaking research.

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.

Is there any evidence suggesting that this treatment is likely to be safe for humans?

Research has shown that glycerol phenylbutyrate (PBA) is FDA-approved for other uses, indicating its general safety for people. This trial is in its early stages, aiming to determine if PBA is safe and well-tolerated for treating achromatopsia, a type of color blindness. As an early phase trial, specific safety data for this use may be limited. However, PBA's FDA approval for other conditions provides some reassurance about its safety. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Unlike the standard treatments for color blindness, which often rely on visual aids like tinted lenses or glasses, PBA (Photobiomodulation Therapy) offers a unique approach by potentially improving retinal function at the cellular level. This treatment targets a specific genetic mutation, ATF6-/-, associated with achromatopsia, aiming to restore some degree of natural color vision rather than just enhancing contrast. Researchers are excited about PBA because it represents a shift from compensating for color blindness to possibly correcting its underlying cause, providing hope for more lasting and meaningful improvements in vision.

What evidence suggests that PBA might be an effective treatment for achromatopsia?

Research suggests that glycerol phenylbutyrate (PBA) might improve vision in people with achromatopsia caused by ATF6 mutations. This trial will administer PBA to participants to evaluate its effectiveness for this type of color blindness. Although the FDA has approved PBA for other uses, its potential to aid color blindness remains under investigation. PBA may reduce stress in eye cells, possibly enhancing vision. While specific data on PBA's effectiveness for this type of color blindness is not yet available, the drug's mechanism offers researchers hope. Early results from other treatments for genetic causes of achromatopsia have been positive, making the study of PBA a promising direction. ^{2 3 5 6 7}

Who Is on the Research Team?

Stephen Tsang, MD

Principal Investigator

Columbia University

Are You a Good Fit for This Trial?

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

Timeline for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Citations

1. withpower.com withpower.com/trial/early-phase-1-color-vision-defects-7-2021-da406

PBA for Color Blindness · Info for Participants This trial investigates whether the drug PBA can improve vision in patients with a specific type of color blindness caused by a genetic mutation.

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11396370/

Gene Therapy for Achromatopsia - PMC - PubMed Central Positive responses were seen in 6 out of 23 participants for colour vision, 11 out of 20 for photoaversion, and 21 out of 23 in vision-related ...

3. eyewiki.org eyewiki.org/Achromatopsia

Achromatopsia A series of 9 patients, published in April of 2020, was found to have promising results following subretinal adenoviral gene therapy targeting CNGA3, with cone ...

4. frontiersin.org frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1497501/full

Photobiomodulation therapy for congenital color vision ... Following 1 week of PBM therapy, deuteranomaly and protanomaly patients demonstrated significant improvement in color vision. PBM treatment ...

5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/37920903/

Achromatopsia: Long term visual performance and clinical ... Achromatopsia is an autosomal recessive cone dysfunction syndrome, characterized by absence of color discrimination, low visual acuity, photophobia, and ...

6. ctv.veeva.com ctv.veeva.com/study/pba-use-for-treatment-of-atf6-patients

PBA Use for Treatment of ATF6-/- Patients - ClinicalTrials.Veeva The study aims to investigate whether an already FDA-approved drug, glycerol phenylbutyrate (PBA), can improve retinal function inpatients with ...

7. malacards.org malacards.org/card/achromatopsia

Achromatopsia People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the ...