ArticleMolecular therapy : the journal of the American Society of Gene Therapy2013
Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 57 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 Phase 1/2 Study to Determine Safety and Efficacy of Transplantation With Autologous Human CD34+ Hematopoietic Stem Cells (HSC) From Mobilized Peripheral Blood Stem Cells (PBSC) of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS or pCDY.EFS.CTNS.T260I Lentiviral Vector and Will Include Transduction Enhancer When Required During Manufacturing
A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Cell-based therapies for experimental chronic kidney disease: a systematic review and meta-analysis.Disease models & mechanisms · 2015Pooled it
- Hematopoietic Stem-Cell Gene Therapy for Cystinosis.The New England journal of medicine · 2026Trial
- Edited HSPCs rescue frataxin deficiency and inflammation-driven multisystemic pathology in Friedreich's ataxia mice.The Journal of clinical investigation · 2026Article
- The molecular architecture of tunneling nanotubes.bioRxiv : the preprint server for biology · 2026Article
- Cystinosin regulates NaEMBO reports · 2026Article
- Gene modification: Exploring the potential in treating kidney diseases.Pharmacological research · 2026Review
- Serum N-glycosylation is altered in Nephropathic Cystinosis.Glycobiology · 2025Article
- Neuroimmunology in globoid cell leukodystrophy: A comprehensive review including treatments, models, and neuroimmune mechanisms underlying neuropathology.Journal of neuroimmunology · 2025Review
- Cystinosin is involved in NabioRxiv : the preprint server for biology · 2025Article
- Advances in Diagnosis and Treatment of Inherited Kidney Diseases in Children.Kidney diseases (Basel, Switzerland) · 2024Review
- Targeted therapeutic strategies for the kidney.Expert opinion on therapeutic targets · 2024Review
- Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.Journal of the American Society of Nephrology : JASN · 2024Article
- Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells.Neural regeneration research · 2024Article
- Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.Scientific reports · 2023Article
- Rescue of Alzheimer's disease phenotype in a mouse model by transplantation of wild-type hematopoietic stem and progenitor cells.Cell reports · 2023Article
- Cell and gene therapy for kidney disease.Nature reviews. Nephrology · 2023Review
- The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing.The ocular surface · 2023Article
- Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine.Human molecular genetics · 2023Article
- [Cystinosis: From the gene identification to the first gene therapy clinical trial].Medecine sciences : M/S · 2023Review
- Gene therapy for lysosomal storage diseases: Current clinical trial prospects.Frontiers in genetics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders (LSDs). The defective gene is CTNS encoding the lysosomal cystine transporter, cystinosin. Cystine accumulates in all tissues and leads to organ damage including end-stage renal disease. Using the Ctns(-/-) murine model for cystinosis, we tested the use of hematopoietic stem and progenitor cells (HSPC) genetically modified to express a functional CTNS transgene using a self-inactivating-lentiviral vector (SIN-LV). We showed that transduced cells were capable of decreasing cystine content in all tissues and improved kidney function. Transduced HSPC retained their differentiative capabilities, populating all tissue compartments examined and allowing long-term expression of the transgene. Direct correlation between the levels of lentiviral DNA present in the peripheral blood and the levels present in tissues were demonstrated, which could be useful to follow future patients. Using a new model of cystinosis, the DsRed Ctns(-/-) mice, and a LV driving the expression of the fusion protein cystinosin-enhanced green fluorescent protein (eGFP), we showed that cystinosin was transferred from CTNS-expressing cells to Ctns-deficient adjacent cells in vitro and in vivo. This transfer led to cystine decreases in Ctns-deficient cells in vitro. These data suggest that the mechanism of cross-correction is possible in cystinosis.
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.