Updates on Emerging Interventions for Autosomal Recessive ABCA4-Associated Stargardt Disease

Author:

Wang Liang1ORCID,Shah Serena M.12ORCID,Mangwani-Mordani Simran2ORCID,Gregori Ninel Z.23

Affiliation:

1. University of Miami Miller School of Medicine, Miami, FL 33136, USA

2. Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA

3. Miami Veterans Administration Medical Center, Miami, FL 33125, USA

Abstract

Autosomal recessive Stargardt disease (STGD1) is an inherited retinal degenerative disease associated with a mutated ATP-binding cassette, subfamily A, member 4 (ABCA4) gene. STGD1 is the most common form of juvenile macular degeneration with onset in late childhood to early or middle adulthood and causes progressive, irreversible visual impairment and blindness. No effective treatment is currently available. In the present article, we review the most recent updates in clinical trials targeting the management of STGD1, including gene therapy, small molecule therapy, and stem cell therapy. In gene therapy, dual adeno-associated virus and non-viral vectors have been successful in delivering the human ABCA4 gene in preclinical studies. For pharmaceutical therapies ALK-001, deuterated vitamin A shows promise with preliminary data for phase 2 trial, demonstrating a decreased atrophy growth rate after two years. Stem cell therapy using human pluripotent stem cell-derived retinal pigment epithelium cells demonstrated long-term safety three years after implantation and visual acuity improvements in the first two years after initiation of therapy. Many other treatment options have ongoing investigations and clinical trials. While multiple potential interventions have shown promise in attenuating disease progression, further exploration is necessary to demonstrate treatment safety and efficacy.

Publisher

MDPI AG

Subject

General Medicine

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review;International Journal of Molecular Sciences;2024-08-14

2. Therapeutic Applications of Aptamers;International Journal of Molecular Sciences;2024-06-19

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