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Gene therapy for Leber hereditary optic neuropathy

AAN 2021

An indirect comparison of 76 treated patients with an external control group of 208 untreated patients showed a clinically meaningful effect of gene therapy on visual outcomes in patients with Leber hereditary optic neuropathy with ND4-mutations (ND4-LHON).

The treated population consisted of 76 patients with ND4-LHON who had received unilateral treatment with rAAV2/2-ND4 gene therapy –showing unexpected sustained bilateral improvement– in two phase 3 multicentre clinical trials: RESCUE (NCT02652767) and REVERSE (NCT02652780). Of this cohort, 62 patients enrolled in a long-term follow-up study. The untreated population consisted of 208 ND4-LHON patients, the large majority of whom participated in 10 historical studies. Best corrected visual acuity (BCVA) in both groups was compared 12, 18, 24, 36, and 48 months after onset of vision loss [1].

In the treated group, BCVA demonstrated gradual, progressive, and sustained improvement from month 12 to the last available observation (on average 51.5 months). In untreated patients, there was no improvement. After 48 months, mean BCVA in the treated and untreated cohort was 1.26 and 1.59 logMAR, respectively (P<0.01).

  1. Newman N, et al. Evaluation of rAAV2/2-ND4 Gene Therapy Efficacy in Leber Hereditary Optic Neuropathy Using an External Control Group of Untreated Patients. P21.011, AAN 2021 Virtual Congress, 17-22 April.

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