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Record W4415994570 · doi:10.1186/s13023-025-04098-0

Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort

2025· article· en· W4415994570 on OpenAlexaffabout
Emilie T. Théberge, Caroline Selvage, Anita C. Thomas, Kaye LeMoine, Rebecca Robichaud, Lily Zhou, Darwin F. Yeung, Michael L. West, Sandra Sirrs, Anna Lehman

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsStornoway Diamond (Canada)Dalhousie UniversityNova Scotia Health AuthorityVancouver General HospitalUniversity of British Columbia
Fundersnot available
KeywordsAspirinCohortIncidence (geometry)Fabry diseaseStroke (engine)Stroke riskCohort studyDisease

Abstract

fetched live from OpenAlex

BACKGROUND: Fabry disease (FD) is an X-linked disorder caused by deleterious variants in GLA. Cardiovascular disease (CVD) causes premature mortality in FD. Hope for aspirin (acetylsalicylic acid, ASA) to reduce CVD risks in FD as primary prevention may have been tempered by the 2018 ARRIVE, ASCEND, and ASPREE clinical trials. It is unclear how new ASA guidance applies to FD patients, who have a high rate of young-onset, small vessel stroke compared with the general population. METHODS: Longitudinal data spanning 2007-2023 from patients in the Canadian Fabry Disease Initiative (CFDI) were analyzed retrospectively. Incident stroke and transient ischemic attack (TIA), other CVD events, FD-specific risk factors, and ASA/antiplatelet ("ASA/AP") prescription before and after 2018 were compared between groups who never had an event ("primary prevention group") to those who had incident stroke/TIA during the study. Stroke/TIA rates were compared within CFDI by sex and GLA variant severity, and in the CFDI compared to Canadian statistics by sex. Ten-year atherosclerotic CVD (ASCVD) risk was calculated using the 2013 ACC/AHA risk calculator. ASA/AP prescription rate was compared before and after 2018. RESULTS: Out of 641 patients, 57 had an incident stroke/TIA during the study, and 193 with complete data remained in the primary prevention group. Stroke/TIA rates were significantly higher among male patients (0.026 events per patient-year) than females (0.0098 events per patient-year), and higher among patients with severe GLA variants (males: 0.031 events per patient-year, females: 0.0096 events per patient-year) compared to those with attenuated variants (males: 0.011 events per patient-year, females: 0.0088 events per patient-year). No patients under 60 years at their incident stroke/TIA had high (≥ 10%) calculated 10-year ASCVD risk. Fewer patients were prescribed ASA/AP for primary prevention after 2018. CONCLUSIONS: There was a high incidence of stroke/TIA in the younger CFDI cohort compared to the general Canadian population, despite low levels of traditional vascular risk factors as represented in 10-year estimated ASCVD risk. Primary prevention use of ASA has declined.

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)0.002
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 score0.049
Threshold uncertainty score0.098

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0020.004
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.025
GPT teacher head0.308
Teacher spread0.283 · 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 routes2
Has abstractyes

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