David A Merle, Leen Hertens, Spyridon Dimopoulos, Susanne Kohl, Manon Van Haute, Elfride De Baere, Marieke De Bruyne, Barbara Janssens, Klaus Rüther, Cord Huchzermeyer, Pascale Mazzola, Fanny Nerinckx, Tobias Haack, Lasse Wolfram, Melanie Kempf, Laura Kühlewein, Krunoslav Stingl, Bart P Leroy, Katarina Stingl
{"title":"Voretigene Neparvovec治疗轻度常染色体隐性rpe65相关视网膜营养不良患儿的短期疗效","authors":"David A Merle, Leen Hertens, Spyridon Dimopoulos, Susanne Kohl, Manon Van Haute, Elfride De Baere, Marieke De Bruyne, Barbara Janssens, Klaus Rüther, Cord Huchzermeyer, Pascale Mazzola, Fanny Nerinckx, Tobias Haack, Lasse Wolfram, Melanie Kempf, Laura Kühlewein, Krunoslav Stingl, Bart P Leroy, Katarina Stingl","doi":"10.1167/tvst.14.8.8","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Voretigene neparvovec is approved for RPE65-associated inherited retinal degeneration (RPE65-IRD) in the United States and the European Union. According to current knowledge, early treatment benefits efficacy. However, consensus on treating mild cases is lacking due to ambiguity in balancing clinical benefits with potential side effects. Therefore, we present short-term outcomes of four pediatric patients with milder types of RPE65-IRD.</p><p><strong>Methods: </strong>Two unrelated pediatric patients were unilaterally treated at the University Eye Hospital in Tübingen, Germany. Another two unrelated pediatric patients were bilaterally treated at Ghent University Hospital, Belgium. Examinations were performed before and until at least 6 months after treatment, including best-corrected visual acuity, slit-lamp examination, fundus photography, short-wavelength fundus autofluorescence, optical coherence tomography, 90° kinetic perimetry, dark-adapted chromatic perimetry, and full-field stimulus threshold measurements.</p><p><strong>Results: </strong>Despite surgical challenges, treatment with voretigene neparvovec was successful in all four patients. All patients showed rod functional rescue with stable best-corrected visual acuity. Three patients suffered chorioretinal atrophy at the retinotomy site but none developed signs of fast-growing CRA. One case developed limited CRA in the bleb area, potentially related to inflammation in the subretinal space.</p><p><strong>Conclusions: </strong>Treatment with voretigene neparvovec was safe and effective in patients with mild RPE65-IRD. Early treatment showed good functional outcomes. Also, treatment at stages without profound retinal degeneration might lower the risk of fast-growing CRA.</p><p><strong>Translational relevance: </strong>This study aids clinical decision-making in unclear cases by demonstrating that early treatment with voretigene neparvovec in mild RPE65-IRD provides functional benefits while minimizing the risk of fast-growing chorioretinal atrophy.</p>","PeriodicalId":23322,"journal":{"name":"Translational Vision Science & Technology","volume":"14 8","pages":"8"},"PeriodicalIF":2.6000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12327541/pdf/","citationCount":"0","resultStr":"{\"title\":\"Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.\",\"authors\":\"David A Merle, Leen Hertens, Spyridon Dimopoulos, Susanne Kohl, Manon Van Haute, Elfride De Baere, Marieke De Bruyne, Barbara Janssens, Klaus Rüther, Cord Huchzermeyer, Pascale Mazzola, Fanny Nerinckx, Tobias Haack, Lasse Wolfram, Melanie Kempf, Laura Kühlewein, Krunoslav Stingl, Bart P Leroy, Katarina Stingl\",\"doi\":\"10.1167/tvst.14.8.8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Voretigene neparvovec is approved for RPE65-associated inherited retinal degeneration (RPE65-IRD) in the United States and the European Union. According to current knowledge, early treatment benefits efficacy. However, consensus on treating mild cases is lacking due to ambiguity in balancing clinical benefits with potential side effects. Therefore, we present short-term outcomes of four pediatric patients with milder types of RPE65-IRD.</p><p><strong>Methods: </strong>Two unrelated pediatric patients were unilaterally treated at the University Eye Hospital in Tübingen, Germany. Another two unrelated pediatric patients were bilaterally treated at Ghent University Hospital, Belgium. Examinations were performed before and until at least 6 months after treatment, including best-corrected visual acuity, slit-lamp examination, fundus photography, short-wavelength fundus autofluorescence, optical coherence tomography, 90° kinetic perimetry, dark-adapted chromatic perimetry, and full-field stimulus threshold measurements.</p><p><strong>Results: </strong>Despite surgical challenges, treatment with voretigene neparvovec was successful in all four patients. All patients showed rod functional rescue with stable best-corrected visual acuity. Three patients suffered chorioretinal atrophy at the retinotomy site but none developed signs of fast-growing CRA. One case developed limited CRA in the bleb area, potentially related to inflammation in the subretinal space.</p><p><strong>Conclusions: </strong>Treatment with voretigene neparvovec was safe and effective in patients with mild RPE65-IRD. Early treatment showed good functional outcomes. Also, treatment at stages without profound retinal degeneration might lower the risk of fast-growing CRA.</p><p><strong>Translational relevance: </strong>This study aids clinical decision-making in unclear cases by demonstrating that early treatment with voretigene neparvovec in mild RPE65-IRD provides functional benefits while minimizing the risk of fast-growing chorioretinal atrophy.</p>\",\"PeriodicalId\":23322,\"journal\":{\"name\":\"Translational Vision Science & Technology\",\"volume\":\"14 8\",\"pages\":\"8\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12327541/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Translational Vision Science & Technology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1167/tvst.14.8.8\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Translational Vision Science & Technology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1167/tvst.14.8.8","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.
Purpose: Voretigene neparvovec is approved for RPE65-associated inherited retinal degeneration (RPE65-IRD) in the United States and the European Union. According to current knowledge, early treatment benefits efficacy. However, consensus on treating mild cases is lacking due to ambiguity in balancing clinical benefits with potential side effects. Therefore, we present short-term outcomes of four pediatric patients with milder types of RPE65-IRD.
Methods: Two unrelated pediatric patients were unilaterally treated at the University Eye Hospital in Tübingen, Germany. Another two unrelated pediatric patients were bilaterally treated at Ghent University Hospital, Belgium. Examinations were performed before and until at least 6 months after treatment, including best-corrected visual acuity, slit-lamp examination, fundus photography, short-wavelength fundus autofluorescence, optical coherence tomography, 90° kinetic perimetry, dark-adapted chromatic perimetry, and full-field stimulus threshold measurements.
Results: Despite surgical challenges, treatment with voretigene neparvovec was successful in all four patients. All patients showed rod functional rescue with stable best-corrected visual acuity. Three patients suffered chorioretinal atrophy at the retinotomy site but none developed signs of fast-growing CRA. One case developed limited CRA in the bleb area, potentially related to inflammation in the subretinal space.
Conclusions: Treatment with voretigene neparvovec was safe and effective in patients with mild RPE65-IRD. Early treatment showed good functional outcomes. Also, treatment at stages without profound retinal degeneration might lower the risk of fast-growing CRA.
Translational relevance: This study aids clinical decision-making in unclear cases by demonstrating that early treatment with voretigene neparvovec in mild RPE65-IRD provides functional benefits while minimizing the risk of fast-growing chorioretinal atrophy.
期刊介绍：
Translational Vision Science & Technology (TVST), an official journal of the Association for Research in Vision and Ophthalmology (ARVO), an international organization whose purpose is to advance research worldwide into understanding the visual system and preventing, treating and curing its disorders, is an online, open access, peer-reviewed journal emphasizing multidisciplinary research that bridges the gap between basic research and clinical care. A highly qualified and diverse group of Associate Editors and Editorial Board Members is led by Editor-in-Chief Marco Zarbin, MD, PhD, FARVO.
The journal covers a broad spectrum of work, including but not limited to:
Applications of stem cell technology for regenerative medicine,
Development of new animal models of human diseases,
Tissue bioengineering,
Chemical engineering to improve virus-based gene delivery,
Nanotechnology for drug delivery,
Design and synthesis of artificial extracellular matrices,
Development of a true microsurgical operating environment,
Refining data analysis algorithms to improve in vivo imaging technology,
Results of Phase 1 clinical trials,
Reverse translational ("bedside to bench") research.
TVST seeks manuscripts from scientists and clinicians with diverse backgrounds ranging from basic chemistry to ophthalmic surgery that will advance or change the way we understand and/or treat vision-threatening diseases. TVST encourages the use of color, multimedia, hyperlinks, program code and other digital enhancements.
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