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Record W4413087173 · doi:10.1080/23995270.2025.2532358

How I treat Rett syndrome with trofinetide: changes in dosing frequency and administration with rice cereal

2025· article· en· W4413087173 on OpenAlexaboutno aff
Arthur Beisang

Bibliographic record

VenueFuture Rare Diseases · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsnot available
FundersACADIA Pharmaceuticals
KeywordsRett syndromeDosingAdministration (probate law)MedicinePharmacologyBiologyBiochemistry

Abstract

fetched live from OpenAlex

Trofinetide is the first and only medication approved for the treatment for Rett syndrome (RTT) in patients aged ≥2 years in the US and Canada. Trofinetide is disease-specific and improves the core symptoms of RTT. The most common adverse event reported in trofinetide clinical trials was diarrhea. Recommendations for the management of diarrhea with trofinetide include lifestyle and pharmacological interventions. Clinicians and caregivers of patients with RTT remain interested in additional diarrhea management strategies to avoid treatment discontinuation. Here, I present the rationale for how changing the trofinetide dosing schedule from the recommended twice a day dosing to three or four times a day, with or without rice cereal, can mitigate the incidence of diarrhea with trofinetide without the use of antidiarrheal medications. The rationale for these changes is supported by the presentation of three anecdotal cases from my clinical practice. In all patient cases, the change of dosing schedule or the addition of rice cereal resolved the incidence of diarrhea, allowing for treatment continuation and improvement in RTT symptoms. These experiences suggest that the incidence of diarrhea can be improved by changing the trofinetide dosing schedule with or without the addition of rice cereal without negative impact to 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)0.001
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.004
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0000.000
Science and technology studies0.0010.001
Scholarly communication0.0010.002
Open science0.0010.000
Research integrity0.0020.003
Insufficient payload (model declined to judge)0.0040.002

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 head0.004
GPT teacher head0.203
Teacher spread0.199 · 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 designCase report
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

Citations2
Published2025
Admission routes1
Has abstractyes

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