Gene Therapy for Nephropathic Cystinosis

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Source: NEJM

Original: https://www.nejm.org/doi/full/10.1056/NEJMe2600177?af=R&rss=currentIssue...

Published: 2026-02-18T10:00:05Z

An article in the New England Journal of Medicine (Volume 394, Issue 8, Pages 809-810, February 19, 2026) discusses gene therapy for nephropathic cystinosis. Nephropathic cystinosis is a monogenic disease caused by a mutation in one gene.[1] Gene therapy provides a functional copy of the defective gene using an inactivated adeno-associated virus (AAV).[1] This approach repairs defective DNA in kidney cells and other tissues.[1] The study reports the main findings from a clinical trial where patients showed improvement in kidney function after the therapy.[3] In Slovakia, it is diagnosed in eight children and one patient was identified in infancy.[3] The therapy represents an advance over current supportive treatment.[3]