Qualifications for Retinitis Pigmentosa and Leber Congenital Amaurosis Patients for Adeno-Associated Viral Gene-Replacement Therapy Clinical Trials
Journal Title: Journal of Ophthalmology and Advance Research - Year 2023, Vol 4, Issue 3
Abstract
Introduction: This study identifies Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) patients at an Inherited Retinal Disease (IRD) clinic that qualify for ongoing or FDA-approved Adeno-Associated Virus (AAV) gene-replacement therapies. The goal is to demonstrate the benefits of genetic testing at the initial evaluation. Method: A database for RP and LCA patients was curated and clinicaltrials.gov was used to search all ongoing or approved gene-replacement therapies between 1 January 2022 – 1 January 2023. Patients were evaluated for qualification based on the inclusion/exclusion criteria set by each trial. Results: 199 RP and 31 LCA patients were included in the study. Our team identified six AAV gene-replacement therapy clinical trials and the FDA-approved Luxturna®. One hundred fifty-five patients underwent genetic testing and 89 patients had a pathogenic variant identified. A total of 15 patients qualified for one of the proposed trials. Three patients had a biallelic RPE65 mutation and two of them qualified for Luxturna®. All 11 patients with an RPGR mutation qualified for one of the three clinical trials that focused on this gene. Three patients had a c.2991+1655A>G mutation in CEP290 and two of them qualified one of two clinical trials for this gene. Conclusion: Overall, ~10% of patients who had genetic testing qualified for one of the reviewed therapies. A total of 15 patients qualified for an AAV gene-replacement therapy. This study highlights the importance of promoting genetic testing for IRD patients, the need for earlier disease evaluation and the value of continual monitoring of disease progression.
Authors and Affiliations
Richard Sather III1, Jacie Ihinger1, Talhah Zubair1, Ameay Naravane1, Olufemi Adams1, Tyler Looysen1, Glenn P Lobo1, Michael Simmons1, Sandra R Montezuma1*
Keywords
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- EP ID EP726000
- DOI https://doi.org/10.46889/JOAR.2023.4309
- Views 40
- Downloads 0
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