MétaCan
Menu
Back to cohort
Record W4417216476 · doi:10.1080/23995270.2025.2597031

Real-world use of trofinetide: a survey of practices from prescribers at Rett syndrome centers of excellence in the United States

2025· article· en· W4417216476 on OpenAlexaboutno aff
Erin Prange, David N. Lieberman, Grace Correa, Christopher W. Beatty, Arthur Beisang, Emily de los Reyes, Davut Pehli̇van, Alan K. Percy, Robin Ryther, Steven A. Skinner, Bernhard Suter, Louise Cosand, Alyssa M. Peckham

Bibliographic record

VenueFuture Rare Diseases · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsnot available
Fundersnot available
KeywordsExcellenceRett syndromeMEDLINECLARITY

Abstract

fetched live from OpenAlex

Introduction Trofinetide is approved for the treatment of Rett syndrome (RTT) in the United States and Canada. The objective of this study was to describe RTT expert approach to trofinetide titration and observed impact in their practice.Methods In May 2024, an electronic survey was sent to prescribers at RTT centers of excellence (COEs) in the United States to collect real-world experience with trofinetide dosing strategies and observed impact on tolerability.Results Overall, 67% (22/33) of prescribers from 89% (16/18) of COEs responded to the survey. Most respondents (95%, n = 21) indicated they titrate trofinetide and 86% (n = 19) believed titration improved tolerability. Titration strategies included initiating at a lower percentage (50%, n = 11) or initiating at lower milliliters (27%, n = 6) than label dose, or individualized starting dose based on baseline conditions (14%, n = 3). Respondents estimated a median 75% of patients achieve their label dose after titration. Respondents encourage families to remain on trofinetide for a median of ≥16 weeks to adequately evaluate efficacy; most (77%, n = 17) indicated this period should start after the patient arrives at their highest tolerable dose.Conclusions Survey respondents from RTT COEs in the United States are most commonly titrating trofinetide to improve tolerability while decreasing treatment discontinuations.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.012
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.023
Threshold uncertainty score0.045

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.012
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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.

Opus teacher head0.021
GPT teacher head0.270
Teacher spread0.249 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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".

Quick stats

Citations1
Published2025
Admission routes1
Has abstractyes

Explore more

Same venueFuture Rare DiseasesSame topicGenetics and Neurodevelopmental DisordersFrench-language works237,207