Efficacy and safety of gene therapy with AAV4 in childhood blindness due to rpe65 mutations
Bibliographic record
Abstract
Abstract Purpose To assess the safety and efficiency of an subretinal injection of an AAV2/4.rpe65.hrpe65 in subjects with LCA due to mutations rpe65 genes. Methods A phase I/II clinical trial assessed the safety and the efficiency of one subretinal injection with AAV2/4.rpe65.hrep65 vector in the worse eye of patient with rpe65‐/‐ retinal dystrophy. Patients of the first cohort received up to 400 µL and patients of the second cohort up to 800 µL of a vector solution at 6.1010 vector genome/mL. The primary safety endpoints are evaluated by biomicroscopy, laser flare meter, fundus photography, fluorescein angiography, OCT and a tolerance questionnaire. Secondary efficacy endpoints are evaluated by global ERG, multifocal ERG, visual field, near and far visual acuity, color vision test, pupillometry, microperimetry, visual mobility, functional MRI and fundus autofluorescence. Results We will present results of the first six patients included in an ongoing study. Patients are 21 to 42 years old. The three first patients were included in the first cohort and three other were included in the second cohort. No adverse effects or ocular inflammation are noticed one year to 2 months after subretinal injection. Visual acuity is limited to light perception to 1/12 and remained stable after subretinal injection. Visual field modifications in the subretinal treated area are noticed in all patients. Conclusion subretinal injection of a serotype 4 AAV vector for gene therapy treatment of rpe65‐/‐ retinal degeneration is safe. Visual field improvement found in our adult patients want us to treat 3 childrens scheduled in the third cohort.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| 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) | 0.000 | 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 teacher head, 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".