{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Barshop BA"],"funding":["Cystinosis Research Foundation","NINDS NIH HHS","California Institute for Regenerative Medicine","Novartis"],"pagination":["753-762"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12919641"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["394(8)"],"pubmed_abstract":["<h4>Background</h4>Cystinosis is a multisystemic lysosomal storage disorder caused by pathogenic variants in <i>CTNS</i>, the gene encoding cystinosin, a lysosomal transmembrane cystine transporter. In patients with cystinosis, cystine accumulates within lysosomes in all organs. The cystine-depleting agent cysteamine delays but does not prevent disease progression.<h4>Methods</h4>In this phase 1-2, open-label, ongoing clinical study, we performed a preliminary assessment of CTNS-RD-04, which consists of autologous CD34+ cells transduced with lentiviral vectors carrying <i>CTNS</i> complementary DNA, in patients with cystinosis. The primary end points were the safety and the side-effect profiles of CTNS-RD-04. Secondary end points were measures of efficacy, including white-cell cystine leve"],"journal":["The New England journal of medicine"],"pubmed_title":["Hematopoietic Stem-Cell Gene Therapy for Cystinosis."],"pmcid":["PMC12919641"],"funding_grant_id":["30327993","R01 NS135162","CLIN2-11478"],"pubmed_authors":["Afshari NA","Gangoiti JA","Barshop BA","Bushman FD","Shayan K","Panchal M","Ball ED","Kohn D","Campo Fernandes B","Phillips S","Dohil R","Midgley J","Sawyers A","Ahmed I","Liang H","Trauner D","Cherqui S","Roy S","Benador N","Everett JK"],"additional_accession":[]},"is_claimable":false,"name":"Hematopoietic Stem-Cell Gene Therapy for Cystinosis.","description":"<h4>Background</h4>Cystinosis is a multisystemic lysosomal storage disorder caused by pathogenic variants in <i>CTNS</i>, the gene encoding cystinosin, a lysosomal transmembrane cystine transporter. In patients with cystinosis, cystine accumulates within lysosomes in all organs. The cystine-depleting agent cysteamine delays but does not prevent disease progression.<h4>Methods</h4>In this phase 1-2, open-label, ongoing clinical study, we performed a preliminary assessment of CTNS-RD-04, which consists of autologous CD34+ cells transduced with lentiviral vectors carrying <i>CTNS</i> complementary DNA, in patients with cystinosis. The primary end points were the safety and the side-effect profiles of CTNS-RD-04. Secondary end points were measures of efficacy, including white-cell cystine leve","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Feb","modification":"2026-07-16T09:17:22.346Z","creation":"2026-07-09T10:46:50.385Z"},"accession":"S-EPMC12919641","cross_references":{"pubmed":["41707137"],"doi":["10.1056/NEJMoa2506431","10.1056/nejmoa2506431"]}}