Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report
Bibliographic record
Abstract
INTRODUCTION: Thanatophoric dysplasia type 1 (TD1) is the most severe form of FGFR3-related skeletal dysplasia, with high perinatal mortality and no approved pharmacologic therapies. Vosoritide, a C-type natriuretic peptide analogue that counteracts FGFR3 overactivation, improves growth in achondroplasia, but its effects in TD1 remain unexplored. CASE PRESENTATION: We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T). Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months. Growth velocity, anthropometry, pulmonary function, densitometry, and safety were assessed longitudinally over 28 months. At baseline, height was 78.6 cm (-10.9 SDS) and annual growth velocity (AGV) 1.6 cm/year (-4.7 SDS). After 28 months, height increased by +1.3 SDS and AGV by +2.0 cm/year (+3 SDS from baseline). Lung vital capacity improved by 65%. Serial MRI demonstrated persistent severe foramen magnum stenosis without radiological progression. Adverse events were limited to transient injection-site reactions and mild vasovagal episodes; no major safety concerns emerged. CONCLUSIONS: Vosoritide was well tolerated and improved growth velocity and lung function in this long-term TD1 survivor, suggesting therapeutic potential even in severe FGFR3 overactivation. Given TD1's rarity, larger studies and further off-label experience are essential to validate these findings.
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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 | 0.002 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.004 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".