Hematopoietic Stem-Cell Gene Therapy for Cystinosis - PubMed
4 days ago
- #gene therapy
- #hematopoietic stem cells
- #cystinosis
- Hematopoietic stem-cell gene therapy (CTNS-RD-04) was tested in a phase 1-2 clinical study for cystinosis, a lysosomal storage disorder caused by CTNS gene mutations.
- The therapy involved autologous CD34+ cells transduced with lentiviral vectors carrying CTNS cDNA, aiming to reduce cystine accumulation in lysosomes.
- Six participants aged 20-46 received CTNS-RD-04 and were followed for 29-63 months, showing sustained hematopoietic reconstitution and decreased white-cell cystine levels in most cases.
- Adverse events were mostly mild or moderate, consistent with the myeloablative regimen and underlying disease, with no evidence of monoclonal expansion.
- The study concluded that CTNS-RD-04 was largely safe and showed efficacy in reducing cystine levels, supported by funding from the California Institute for Regenerative Medicine.