498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy
Bibliographic record
Abstract
Body: Mutations in MTM1 result in X-linked myotubular myopathy (XLMTM), a rare neuromuscular disease that causes devastating muscular weakness in affected children, often fatal in the first years of life. A naturally occurring MTM1 mutation in Labrador retrievers provides unprecedented opportunity to assess MTM1 gene replacement strategies. Here, we report clinical and physiological outcomes more than 3 years after a single intravenous infusion of AAV8-MTM1 in two dogs. Readouts include neurological assessment, limb strength, gait, respiratory function, and histology. Results (Fig 1) are shown in comparison to age-matched littermates, and indicate that a single infusion of AAV8-MTM1 can markedly prolong life and achieve near normal levels of neurological function, strength, gait, and respiratory function for more than 3 years in MTM1 mutant dogs.
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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".