Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosis
Bibliographic record
Abstract
OBJECTIVE: Assess safety and effectiveness of subretinal gene replacement therapy at 18 months post treatment. DESIGN: Retrospective, longitudinal study conducted at the Hospital for Sick Children in Toronto, Canada. PARTICIPANTS: Patients with bi-allelic RPE65 variants, early onset retinal degeneration, and residual viable retina who underwent voretigene neparvovec r-zyl gene replacement therapy. METHODS: Data collected included demographic information, molecular genetic results, and comprehensive ocular assessment results from preoperataive and postoperative visits up to 18 months. To assess the treatment's efficacy, postoperative best corrected visual acuity, full-field stimulus test (FST), visual field (VF) area, optical coherence tomography, and global satisfaction were compared to preoperative findings. RESULTS: The procedures were safe with no complications. There was no significant improvement in visual acuity. Three eyes showed a slight reduction in VF area. All showed a reduction in ellipsoid zone thickness and area, but the outer nuclear layer thickness and area were stable. All had a significant improvement in retinal sensitivity, as per FST, allowing better navigation in a dim environment. All 3 patients reported being "very satisfied". CONCLUSION: Following a safe gene replacement therapy, the 3 first Canadian cases had an improvement in retinal sensitivity as per FST, and our patients described their experience as positively life changing.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".