P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency*
Bibliographic record
Abstract
the reverse phenotyping cohort, two out of four participants agreed to complete follow up clinical testing for features of LDS.Both participants had previously been diagnosed with stable aortic root dilation.One participant heterozygous for TGFB3 NM_0003239.5:c.638delp.(Leu213*) met molecular diagnostic criteria for LDS after reverse phenotyping.One participant heterozygous for SMAD3 NM_005902.3:c.1091A>Gp.(Tyr364Cys) did not meet diagnostic criteria but did have a positive family history for a clinical diagnosis Marfan syndrome.This participant had previously tested negative for variants in COL3A1, TGFBR1 and TGFBR2.Conclusion: Genomic ascertainment through EHR-linked biobanks like All of Us provides an opportunity to assess genotype-phenotype associations and trends in diagnosis and screening at large scale, while reverse phenotyping enables more comprehensive evaluation.Given the phenotypic heterogeneity and potential for unrecognized phenotypes in LDS, genomic ascertainment can provide a unifying diagnosis for individuals with presenting symptoms and the opportunity to screen at-risk individuals lacking obvious features of LDS.
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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 | 0.002 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.002 | 0.004 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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".