Innovative Gene Therapy Enables Kidney-Only Transplant for Israeli Toddler with Rare Genetic Disease
Joseph Shwiki, now three years old, was diagnosed as an infant with primary hyperoxaluria type 1 (PH1), a rare genetic disorder causing excessive oxalate production in the liver that damages the kidneys and other organs. By five months, Joseph required dialysis six days a week due to severe kidney failure. Traditionally, children with severe PH1 face prolonged dialysis followed by a complex combined liver and kidney transplant, as the liver continuously produces oxalate that can damage a new kidney.
Joseph’s parents were devastated by the diagnosis, fearing there was little hope. However, a groundbreaking gene-silencing treatment called Lumasiran (Oxlumo), approved in Israel in 2022 and developed with significant input from Shaare Zedek Medical Center’s pediatric nephrology team, offered a new path. This siRNA-based therapy temporarily suppresses the gene responsible for oxalate production without altering DNA. Joseph began monthly injections alongside dialysis, showing rapid improvement and avoiding complications like bone fractures common in PH1.
After extensive testing confirmed significantly reduced oxalate levels, doctors proposed a kidney-only transplant, avoiding the riskier liver transplant. Three months ago, Joseph underwent the kidney transplant at Schneider Children’s Medical Center, becoming one of the first in Israel to receive this treatment approach. His father reported a dramatic change: Joseph is now energetic, playful, and no longer requires dialysis.
Dr. Efrat Ben Shalom, head of pediatric nephrology at Shaare Zedek, emphasized the transplant’s complexity and risks, noting that the gene therapy allowed them to safely bypass liver transplantation. The medical team praised Joseph’s progress as a major success, highlighting the compassionate care provided throughout his treatment journey. This case marks a significant advancement in managing PH1, offering hope to other children with this rare disease.
