ArticleNature medicine2010
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease.
Article in Nature medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03055247 (A Multicentric, Exploratory, Non-randomised, Non-controlled, Prospective, Open-label Phase II Study Evaluating Safety and Efficacy of IBU, G-CSF and Plerixafor as Stem Cell Mobilization Regimen in Patients Affected by X-CGD), which is not on this map. Cited by 410 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Multicentric, Exploratory, Non-randomised, Non-controlled, Prospective, Open-label Phase II Study Evaluating Safety and Efficacy of IBU, G-CSF and Plerixafor as Stem Cell Mobilization Regimen in Patients Affected by X-CGD
Who cites it
410 citing papers in PubMed, 1 synthesis or guideline pooled it, 775 citations in OpenAlex.
- Changing trends in the development of AAV-based gene therapies: a meta-analysis of past and present therapies.Gene therapy · 2023Pooled it
- Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.Cell reports. Medicine · 2023Trial
- Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency.Blood · 2021Trial
- Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.The New England journal of medicine · 2021Trial
- Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.The New England journal of medicine · 2017Trial
- Cytoreductive conditioning intensity predicts clonal diversity in ADA-SCID retroviral gene therapy patients.Blood · 2017Trial
- Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency.The Journal of clinical investigation · 2017Trial
- Recent advances in treating age-related macular degeneration and diabetic retinopathy: Current therapies and emerging novel approaches.GeroScience · 2026Review
- Oncogenesis as an Adverse Effect of Gene Replacement Therapy in Hematopoietic Stem Cells.International journal of molecular sciences · 2026Review
- Lentiviral rescue of UMPS auxotrophy enables drug-free selection and stable vector expression.Molecular therapy. Advances · 2026Article
- Gene Therapy-Related Malignancy and the Risk of Cancer Exceptionalism.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026Article
- Adaptation of lentiviral vectors for viral gene therapy and their impact on host cell biology.Journal of translational medicine · 2026Review
- Transduction of Quiescent Human Hematopoietic Stem and Progenitor Cells Using Lentiviral Vectors and Virus-Like Particles.Current protocols · 2026Article
- Article
- Ex Vivo Gene and Cell Therapy in Hematopoietic Stem Cells.International journal of molecular sciences · 2025Review
- Gene therapy for inborn errors of immunity: past progress, current status and future directions.Rare disease and orphan drugs journal · 2025Article
- Pilocytic astrocytoma in a child with spinal muscular atrophy treated with onasemnogene abeparvovec.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Current landscape of vector safety and genotoxicity after hematopoietic stem or immune cell gene therapy.Leukemia · 2025Review
- Ex vivo modification of hematopoietic stem and progenitor cells for gene therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype.International journal of molecular sciences · 2025Article
350 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
28 authors at 12 institutions in 4 countries.
Funding
Abstract
Gene-modified autologous hematopoietic stem cells (HSC) can provide ample clinical benefits to subjects suffering from X-linked chronic granulomatous disease (X-CGD), a rare inherited immunodeficiency characterized by recurrent, often life-threatening bacterial and fungal infections. Here we report on the molecular and cellular events observed in two young adults with X-CGD treated by gene therapy in 2004. After the initial resolution of bacterial and fungal infections, both subjects showed silencing of transgene expression due to methylation of the viral promoter, and myelodysplasia with monosomy 7 as a result of insertional activation of ecotropic viral integration site 1 (EVI1). One subject died from overwhelming sepsis 27 months after gene therapy, whereas a second subject underwent an allogeneic HSC transplantation. Our data show that forced overexpression of EVI1 in human cells disrupts normal centrosome duplication, linking EVI1 activation to the development of genomic instability, monosomy 7 and clonal progression toward myelodysplasia.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.