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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 OpenAlex
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

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

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.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.006
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.879
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0060.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.001
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