MARIA ZAFEIRIOU - CHATZIEFRAIMIDOU

Ms. MARIA ZAFEIRIOU - CHATZIEFRAIMIDOU

Medicine, Medical School, Aristotle University of Thessaloniki, Thessaloníki, Kentrikí Makedonía, Greece
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Research Focus & Metrics

Academic Career Length

2Years (2025-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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29 January 2025 in Journal of Clinical Medicine
Verified
Journal Article
Open access
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NPNadezhda Pechnikova
Nadezhda Pechnikova
MPMalamati Elissaios Poimenidou
Malamati Elissaios Poimenidou
IIIoannis Panagiotis Iliadis
Ioannis Panagiotis Iliadis
MCMARIA ZAFEIRIOU - CHATZIEFRAIMIDOU
MARIA ZAFEIRIOU - CHATZIEFRAIMIDOU
AIAleksandra V. Iaremenko
Aleksandra V. Iaremenko
AYAlexey V. Yaremenko
Alexey V. Yaremenko
X-linked retinitis pigmentosa (XLRP) is a severe inherited retinal degenerative disease characterized by progressive loss of photoreceptors and retinal pigment epithelium, leading to blindness. Predominantly affecting males due to mutations in the RPGR gene, XLRP currently lacks effective treatments beyond supportive care. Gene therapy has emerged as a promising approach to restore photoreceptor function by delivering functional copies of the RPGR gene. Recent clinical trials using AAV vectors, such as AAV5-RPGR and AGTC-501, have demonstrated encouraging results, including improvements in retinal sensitivity and visual function. While early successes like LUXTURNA have set the precedent for gene therapy in retinal diseases, adapting these strategies to XLRP presents unique challenges due to the complexity of RPGR mutations and the need for efficient photoreceptor targeting. Advances in vector design, including the use of optimized AAV serotypes with enhanced tropism for photoreceptors and specific promoters, have significantly improved gene delivery. Despite setbacks in some studies, ongoing research and clinical trials continue to refine these therapies, offering hope for patients affected by XLRP. This review explores the etiology and pathophysiology of XLRP, evaluates current treatment challenges, highlights recent clinical advances in gene therapy, and discusses future perspectives for bringing these therapies into clinical practice.