DFT383
From Wikipedia, the free encyclopedia
| Clinical data | |
|---|---|
| Drug class | gene therapy |
DFT383 is an investigational gene therapy under development by Novartis for the treatment of cystinosis, a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, leading to cystine accumulation in cells.[1]
The therapy delivers a functional copy of the CTNS gene via autologous hematopoietic stem cell (HSC) transplantation to address the disease’s root cause, targeting patients both pre- and post-kidney transplant.[2]
DFT383 involves extracting a patient’s hematopoietic stem cells, genetically modifying them ex vivo with a lentiviral vector to insert a functional CTNS gene, and reinfusing them after myeloablation.[3]
The modified cells are intended to produce functional cystinosin, a lysosomal cystine-proton symporter, reducing cystine accumulation throughout the body, including in the kidneys, eyes, and other organs.[4]
In preclinical studies using Ctns−/− mice, treatment with lentiviral-based CTNS gene therapy resulted in significant reductions in tissue cystine levels and preservation of kidney, eye, and thyroid function.[5]