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

2025· article· W7114932071 on OpenAlexaboutno aff

Bibliographic record

VenueFigshare · 2025
Typearticle
Language
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsnot available
Fundersnot available
KeywordsExcellenceTolerabilityRett syndromeDosingTelephone survey

Abstract

fetched live from OpenAlex

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. 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. 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. Survey respondents from RTT COEs in the United States are most commonly titrating trofinetide to improve tolerability while decreasing treatment discontinuations. Trofinetide is recommended to be administered using weight-banded dosing, yet dosing flexibility has been observed in the trofinetide clinical trial program and the real worldAn electronic survey was sent in May 2024 to prescribers at Rett syndrome centers of excellence in the United States to collect their real-world experience with trofinetide dosing strategies and impact on tolerabilityMost survey respondents indicated that they titrate trofinetide (ie, initiating at a lower percentage or milliliters than label dose, or start at an individualized dose based on baseline conditions) in treatment-naïve patients and that titration improved tolerability in their practiceApproximately 75% of patients achieve their label dose after titrationRespondents encourage families to remain on trofinetide for a median of at least 16 weeks to adequately evaluate efficacy; this period should start after the patient arrives at their highest tolerable dose Trofinetide is recommended to be administered using weight-banded dosing, yet dosing flexibility has been observed in the trofinetide clinical trial program and the real world An electronic survey was sent in May 2024 to prescribers at Rett syndrome centers of excellence in the United States to collect their real-world experience with trofinetide dosing strategies and impact on tolerability Most survey respondents indicated that they titrate trofinetide (ie, initiating at a lower percentage or milliliters than label dose, or start at an individualized dose based on baseline conditions) in treatment-naïve patients and that titration improved tolerability in their practice Approximately 75% of patients achieve their label dose after titration Respondents encourage families to remain on trofinetide for a median of at least 16 weeks to adequately evaluate efficacy; this period should start after the patient arrives at their highest tolerable dose Trofinetide is approved for the treatment of Rett syndrome (RTT) in the United States and Canada. Trofinetide is recommended to be administered based on patient weight, yet flexible dosing was observed in clinical trials and the real world. Namely, clinicians are starting trofinetide at lower doses than recommended and slowly increasing the dose over time. A survey of experts at RTT centers of excellence in the United States was designed to collect and describe expert approach to, reasons for, and estimated impact of trofinetide dosing changes and increases in their practice. Most survey respondents indicated that they start trofinetide at doses lower than recommended and increase the dose with the goal of reaching the recommended dose. Experts have observed that this approach to trofinetide dosing improves trofinetide tolerability and caregiver and patient quality of life, while decreasing trofinetide discontinuation. The respondents also indicated that most patients can achieve their recommended dose and should try trofinetide for ≥16 weeks at their label dose or highest tolerable dose to adequately assess efficacy.

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)0.013
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 score0.024
Threshold uncertainty score0.048

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.013
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 head0.068
GPT teacher head0.297
Teacher spread0.229 · 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".

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Citations0
Published2025
Admission routes1
Has abstractyes

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