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Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Newman NJ, Biousse V, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Degli Esposti S, La Morgia C, Priglinger C, Karanja R, Taiel M, Sahel JA; LHON Study Group. Yu-Wai-Man P, et al. JAMA Ophthalmol. 2025 Feb 1;143(2):99-108. doi: 10.1001/jamaophthalmol.2024.5375. JAMA Ophthalmol. 2025. PMID: 39699886 Free PMC article. Clinical Trial.
OBJECTIVE: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant for up to 5 years after administration. DESIGN, SETTING, AND PARTICIPANTS: The RESCUE and REVERSE Long-Term Follow-up Study (RESTORE), cond …
OBJECTIVE: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant …
Gene therapy for Leber hereditary optic neuropathy.
Battista M, Carelli V, Bottazzi L, Bandello F, Cascavilla ML, Barboni P. Battista M, et al. Expert Opin Biol Ther. 2024 Jun;24(6):521-528. doi: 10.1080/14712598.2024.2359015. Epub 2024 Jun 28. Expert Opin Biol Ther. 2024. PMID: 38939999 Review.
The causative mtDNA variants (the three common are m.11778 G>A/MT-ND4, m.3460 G>A/MT-ND1, and m.14484T>C/MT-ND6) by affecting complex I impair oxidative phosphorylation in retinal ganglion cells, ultimately leading to irreversible cell death and consequent …
The causative mtDNA variants (the three common are m.11778 G>A/MT-ND4, m.3460 G>A/MT-ND1, and m.14484T>C/MT-ND6) by a …
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy.
Newman NJ, Biousse V, Yu-Wai-Man P, Carelli V, Vignal-Clermont C, Montestruc F, Taiel M, Sahel JA. Newman NJ, et al. Surv Ophthalmol. 2025 Mar-Apr;70(2):283-295. doi: 10.1016/j.survophthal.2024.10.002. Epub 2024 Oct 16. Surv Ophthalmol. 2025. PMID: 39419122 Free article.
Our aim was to assess the visual outcomes of patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A MT-ND4 mutation who had no treatment (natural history) or received idebenone or lenadogene nolparvovec. ...
Our aim was to assess the visual outcomes of patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A MT- …
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Brain. 2024 Jun 3;147(6):1967-1974. doi: 10.1093/brain/awae057. Brain. 2024. PMID: 38478578 Free PMC article.
Rarely, LSS has been reported in association with primary Leber hereditary optic neuropathy (LHON) variants of the mitochondrial DNA, coding for CI subunits (m.3460G>A in MT-ND1, m.11778G>A in MT-ND4 and m.14484T>C in MT-ND6). The underlying mechanism by wh …
Rarely, LSS has been reported in association with primary Leber hereditary optic neuropathy (LHON) variants of the mitochondrial DNA, coding …
Efficacy and safety of intravitreal rAAV2-ND4 therapy for Leber's hereditary optic neuropathy.
Jiang L, Guo S, Li B, Xiao S, Wang F, Wei W. Jiang L, et al. Eye (Lond). 2025 Dec;39(17):3099-3104. doi: 10.1038/s41433-025-03972-2. Epub 2025 Sep 30. Eye (Lond). 2025. PMID: 41028249
BACKGROUND: This study aimed to assess the safety and efficacy of a rAAV2 carrying normal ND4 (rAAV2-ND4) (NR082) in individuals with visual loss due to LHON carrying the m.11778G>A mutation. ...In Group I, the mean baseline best-corrected visual acuity (BCVA) in …
BACKGROUND: This study aimed to assess the safety and efficacy of a rAAV2 carrying normal ND4 (rAAV2-ND4) (NR082) in individua …
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group. Newman NJ, et al. Brain. 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. Brain. 2023. PMID: 36350566 Free PMC article. Clinical Trial.
Leber hereditary optic neuropathy (LHON) is an important example of mitochondrial blindness with the m.11778G>A mutation in the MT-ND4 gene being the most common disease-causing mtDNA variant worldwide. The REFLECT phase 3 pivotal study is a randomized, double-ma …
Leber hereditary optic neuropathy (LHON) is an important example of mitochondrial blindness with the m.11778G>A mutation in the MT …
Idebenone vs. rAAV2-ND4 gene therapy in the treatment of Leber's hereditary optic neuropathy: An indirect comparison meta-analysis.
Hassan AK, Abu Serhan H. Hassan AK, et al. Indian J Ophthalmol. 2025 May 1;73(5):656-664. doi: 10.4103/IJO.IJO_2898_23. Epub 2025 Apr 24. Indian J Ophthalmol. 2025. PMID: 40272293 Free PMC article.
Our analysis included 645 patients from 17 studies; 338 patients from nine studies received idebenone, and 307 patients from eight studies received rAAV2-ND4. When compared to each other, rAAV2-ND4 provided better visual improvement at 6 months with a mean differenc …
Our analysis included 645 patients from 17 studies; 338 patients from nine studies received idebenone, and 307 patients from eight studies r …
Molecular patterns and mechanisms of tumorigenesis in HPV-associated and HPV-independent sinonasal squamous cell carcinoma.
Zamuner FT, Gunti S, Starrett GJ, Faraji F, Toni T, Saraswathula A, Vu K, Gupta A, Zhang Y, Faden DL, Bryan ME, Guo T, Rowan NR, Ramanathan M Jr, Lane AP, Fakhry C, Gallia GL, Allen CT, Rooper LM, London NR Jr. Zamuner FT, et al. Nat Commun. 2025 Jun 11;16(1):5285. doi: 10.1038/s41467-025-59409-7. Nat Commun. 2025. PMID: 40500270 Free PMC article.
We identify HPV-associated SNSCC-specific recurrent mutations in KMT2C, UBXN11, AP3S1, MT-ND4, and MT-ND5, with KMT2D and FGFR3 mutations correlating with reduced overall survival. ...
We identify HPV-associated SNSCC-specific recurrent mutations in KMT2C, UBXN11, AP3S1, MT-ND4, and MT-ND5, with KMT2D and FGFR …
Reduced mtDNA Copy Number Links to Vascular Calcification and Restores After Transplantation.
Schwarz A, Qureshi AR, Hernandez L, Wennberg L, Wernerson A, Kublickiene K, Shiels PG, Filograna R, Stenvinkel P, Witasp A. Schwarz A, et al. Cells. 2025 Jun 18;14(12):917. doi: 10.3390/cells14120917. Cells. 2025. PMID: 40558544 Free PMC article.
We hypothesize that a lower mtDNA-cn is associated with medial calcification, as both are linked to impaired vascular health and accelerated aging. mtDNA-cn was analyzed in 211 CKD5 patients undergoing renal transplantation (RTx) and 196 healthy controls using quantitative PCR (q …
We hypothesize that a lower mtDNA-cn is associated with medial calcification, as both are linked to impaired vascular health and accelerated …
37 results