MétaCan
Menu
Back to cohort
Record W4319997932 · doi:10.1016/j.omtm.2023.01.003

Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease

2023· article· en· W4319997932 on OpenAlexafffund
Amr H. Saleh, Michael Rothe, Dwayne L. Barber, William M. McKillop, Graeme Fraser, Chantal F. Morel, Axel Schambach, Christiane Auray‐Blais, Michael L. West, Daniel H. Fowler, C. Anthony Rupar, Ronan Foley, Jeffrey A. Medin, Armand Keating

Bibliographic record

VenueMolecular Therapy — Methods & Clinical Development · 2023
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsChildren’s Health Research InstituteJuravinski HospitalAlberta Children's HospitalPrincess Margaret Cancer CentreUniversity of CalgaryHôpital FleurimontWestern UniversityUniversity of TorontoUniversité de SherbrookeMcMaster UniversityDalhousie UniversityJuravinski Cancer CentreCentre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-MontréalUniversity Health NetworkUniversity of Alberta
FundersCanadian Institutes of Health ResearchMedizinischen Hochschule HannoverKidney Foundation of CanadaMidwest Athletes Against Childhood Cancer
KeywordsGenetic enhancementLentivirusDominance (genetics)Fabry diseaseBiologyGeneImmunologyMedicineDiseaseGeneticsInternal medicineViral diseaseVirus

Abstract

fetched live from OpenAlex

The safety and efficacy of lentivirus-mediated gene therapy was recently demonstrated in five male patients with Fabry disease—a rare X-linked lysosomal storage disorder caused by GLA gene mutations that result in multiple end-organ complications. To evaluate the risks of clonal dominance and leukemogenesis, which have been reported in multiple gene therapy trials, we conducted a comprehensive DNA insertion site analysis of peripheral blood samples from the five patients in our gene therapy trial. We found that patients had a polyclonal integration site spectrum and did not find evidence of a dominant clone in any patient. Although we identified vector integrations near proto-oncogenes, these had low percentages of contributions to the overall pool of integrations and did not persist over time. Overall, we show that our trial of lentivirus-mediated gene therapy for Fabry disease did not lead to hematopoietic clonal dominance and likely did not elevate the risk of leukemogenic transformation.

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)0.001
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.004

Distilled classifier scores by category (both heads)

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

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 head0.138
GPT teacher head0.468
Teacher spread0.331 · 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

Citations18
Published2023
Admission routes2
Has abstractyes

Explore more

Same venueMolecular Therapy — Methods & Clinical DevelopmentSame topicLysosomal Storage Disorders ResearchFrench-language works237,207