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Record W4415569423 · doi:10.1016/j.jtha.2025.09.041

A comprehensive care pathway of gene therapy for hemophilia based on current guideline documents and summary of product characteristics: communication from the ISTH SSC working group on gene therapy

2025· article· en· W4415569423 on OpenAlexaff
Caroline Mussert, Wolfgang Miesbach, Pratima Chowdary, David Lillicrap, Johnny Mahlangu, Flora Peyvandi, Steven W. Pipe, Alok Srivastava, Jan Voorberg, Glenn F. Pierce, Radosław Kaczmarek, Paul Batty, Ilaria Cutica, Amit Nathwani, Frank W.G. Leebeek

Bibliographic record

VenueJournal of Thrombosis and Haemostasis · 2025
Typearticle
Languageen
FieldMedicine
TopicHemophilia Treatment and Research
Canadian institutionsCanadian Hemophilia SocietyQueen's University
FundersNederlandse Organisatie voor Wetenschappelijk Onderzoek
KeywordsGuidelineGenetic enhancementCare pathwayProduct (mathematics)Health careMEDLINECritical pathways

Abstract

fetched live from OpenAlex

BACKGROUND: Gene therapy for hemophilia has recently been implemented as standard clinical care, requiring organizational and multistakeholder preparedness and clear guidelines. In addition to pharmaceutical summaries of product characteristics (SMPCs), various (inter)national guidance documents have been published. However, no guidance document or SMPC covers the entire gene therapy care pathway. OBJECTIVES: This study provides a complete and comprehensive overview of current guidance documents and SMPCs to develop a comprehensive care pathway for hemophilia gene therapy delivery. METHODS: Published gene therapy guidance documents and collected SMPCs were complemented by a selective search in online databases, including PubMed and scientific societies' websites. Reference lists were checked for additional relevant articles. RESULTS: Four SMPCs and 11 (inter)national guidance documents and recommendations were collected. The documents were focused on either the intervention or the care pathway, and none were comprehensive covering all aspects of hemophilia gene therapy delivery. Considerable differences were found between the 2 approved gene therapy products and between the SMPCs issued by the 2 regulatory authorities, the Food and Drug Administration and the European Medicines Agency. (Inter)national guidance documents provided additional information and recommendations not covered in SMPCs. CONCLUSION: Based on SMPCs and (inter)national guidance documents and recommendations a care pathway has been developed and visualized in a Metro Map. This provides a clear and comprehensive overview of all activities, contact moments, and responsibilities within the longitudinal gene therapy treatment process. This comprehensive care pathway may help navigate gene therapy implementation, providing guidance to clinicians, patients, and caregivers.

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)0.014
metaresearch head score (Gemma)0.028
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.014
Threshold uncertainty score0.074

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0140.028
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0060.005
Science and technology studies0.0010.001
Scholarly communication0.0030.004
Open science0.0010.003
Research integrity0.0030.002
Insufficient payload (model declined to judge)0.0130.006

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 head0.092
GPT teacher head0.379
Teacher spread0.286 · 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 designNot applicable
Domainnot available
GenreOther

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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Same venueJournal of Thrombosis and Haemostasis→Same topicHemophilia Treatment and Research→French-language works237,207→