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Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review.
Ghenciu, Laura Andreea; Hațegan, Ovidiu Alin; Stoicescu, Emil Robert; Iacob, Roxana; Șișu, Alina Maria.
Afiliación
  • Ghenciu LA; Department of Functional Sciences, "Victor Babeș" University of Medicine and Pharmacy Timișoara, Eftimie Murgu Square No. 2, 300041 Timișoara, Romania.
  • Hațegan OA; Discipline of Anatomy and Embriology, Medicine Faculty, Vasile Goldis Western University of Arad, Revolution Boulevard 94, 310025 Arad, Romania.
  • Stoicescu ER; Field of Applied Engineering Sciences, Specialization Statistical Methods and Techniques in Health and Clinical Research, Faculty of Mechanics, 'Politehnica' University Timișoara, Mihai Viteazul Boulevard No. 1, 300222 Timișoara, Romania.
  • Iacob R; Department of Radiology and Medical Imaging, 'Victor Babeș' University of Medicine and Pharmacy Timișoara, Eftimie Murgu Square No. 2, 300041 Timișoara, Romania.
  • Șișu AM; Research Center for Pharmaco-Toxicological Evaluations, 'Victor Babeș' University of Medicine and Pharmacy Timișoara, Eftimie Murgu Square No. 2, 300041 Timișoara, Romania.
Int J Mol Sci ; 25(16)2024 Aug 14.
Article en En | MEDLINE | ID: mdl-39201545
ABSTRACT
Stargardt disease, one of the most common forms of inherited retinal diseases, affects individuals worldwide. The primary cause is mutations in the ABCA4 gene, leading to the accumulation of toxic byproducts in the retinal pigment epithelium (RPE) and subsequent photoreceptor cell degeneration. Over the past few years, research on Stargardt disease has advanced significantly, focusing on clinical and molecular genetics. Recent studies have explored various innovative therapeutic approaches, including gene therapy, stem cell therapy, and pharmacological interventions. Gene therapy has shown promise, particularly with adeno-associated viral (AAV) vectors capable of delivering the ABCA4 gene to retinal cells. However, challenges remain due to the gene's large size. Stem cell therapy aims to replace degenerated RPE and photoreceptor cells, with several clinical trials demonstrating safety and preliminary efficacy. Pharmacological approaches focus on reducing toxic byproduct accumulation and modulating the visual cycle. Precision medicine, targeting specific genetic mutations and pathways, is becoming increasingly important. Novel techniques such as clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 offer potential for directly correcting genetic defects. This review aims to synthesize recent advancements in understanding and treating Stargardt disease. By highlighting breakthroughs in genetic therapies, stem cell treatments, and novel pharmacological strategies, it provides a comprehensive overview of emerging therapeutic options.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Terapia Genética / Transportadoras de Casetes de Unión a ATP / Enfermedad de Stargardt Límite: Animals / Humans Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Rumanía Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Terapia Genética / Transportadoras de Casetes de Unión a ATP / Enfermedad de Stargardt Límite: Animals / Humans Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Rumanía Pais de publicación: Suiza