PBA Use for Treatment of ATF6-/- Patients
ACHROMATOPSIA 7, Achromatopsia
About this trial
This is an interventional treatment trial for ACHROMATOPSIA 7 focused on measuring achromatopsia, PBA, ATF6, color blindness
Eligibility Criteria
Inclusion Criteria:
- Patients harboring mutations in ATF6 present with decreased retinal function
Exclusion Criteria:
- Patients who are minors
- Patients who are pregnant
Sites / Locations
- Edward S. Harkness Eye Institute
Arms of the Study
Arm 1
Experimental
PBA treatment of ATF6-/- Achromatopsia
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.