What is the mechanism of action of this treatment?

Glycerol Phenylbutyrate (PBA) works by reducing endoplasmic reticulum (ER) stress, which is crucial for improving retinal function in patients with color blindness caused by ATF6 mutations. These mutations impair the protein responsible for managing ER stress, leading to decreased retinal function and color vision loss. By alleviating ER stress, PBA helps restore retinal function, potentially improving color vision. This mechanism is significant for color blindness patients as it targets the underlying cellular dysfunction, offering a targeted therapeutic approach that could enhance visual outcomes.

What side effects are associated with this type of intervention?

Glycerol Phenylbutyrate (PBA) is being studied for its potential to improve retinal function in patients with achromatopsia caused by ATF6 mutations by reducing ER stress. Known side effects of PBA include gastrointestinal issues such as nausea, diarrhea, and abdominal pain. Additionally, there may be a risk of elevated blood ammonia levels, which requires monitoring. For general treatments of color blindness, side effects are typically minimal as most interventions are non-invasive, such as the use of color-corrective lenses or digital applications.

What prior FDA approvals exist?

Currently, there are no FDA-approved treatments specifically for color blindness that focus on reducing endoplasmic reticulum (ER) stress. The study of glycerol phenylbutyrate (PBA) for achromatopsia caused by ATF6 mutations is an example of ongoing research in this area. PBA is being investigated for its potential to improve retinal function by addressing ER stress, but it has not yet received FDA approval for this indication.

What other types of research exist?

Currently, there are no specific alternatives to Glycerol Phenylbutyrate (PBA) mentioned for treating color blindness by reducing ER stress. However, exploring other ER stress reducers or treatments that improve retinal function, such as gene therapy or other neuroprotective agents, may offer potential alternatives. Consulting with a healthcare provider for the latest research and clinical trials is recommended.

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PBA for Color Blindness

Phase < 1

Waitlist Available

Led By Stephen Tsang, MD

Research Sponsored by Columbia University

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Be older than 18 years old

Must not have

Patients who are minors

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, 1 month, 3 months, 6 months post-pba use

Awards & highlights

No Placebo-Only Group

Summary

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.

Who is the study for?

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.

What is being tested?

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.

What are the potential side effects?

Potential side effects of PBA may include digestive issues like nausea or stomach pain, headaches, dizziness, fatigue, and skin rash. These are not specific to the trial but known from general use.

Eligibility Criteria

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

Select...

I am under the legal adult age.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, 1 month, 3 months, 6 months post-pba use

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, 1 month, 3 months, 6 months post-pba use

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, 1 month, 3 months, 6 months post-pba use for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Changes in Full-field Electroretinogram (ffERG) X

Changes in best corrected visual acuity (BCVA)

Changes in color vision

+3 more

Secondary study objectives

Changes in anterior segment

Changes in intraocular pressure

Changes observed in posterior segment (slit lamp and binocular fundus examination)

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: PBA treatment of ATF6-/- AchromatopsiaExperimental Treatment1 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.

0 / 1Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Glycerol Phenylbutyrate (PBA) works by reducing endoplasmic reticulum (ER) stress, which is crucial for improving retinal function in patients with color blindness caused by ATF6 mutations. These mutations impair the protein responsible for managing ER stress, leading to decreased retinal function and color vision loss. By alleviating ER stress, PBA helps restore retinal function, potentially improving color vision. This mechanism is significant for color blindness patients as it targets the underlying cellular dysfunction, offering a targeted therapeutic approach that could enhance visual outcomes.

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