Toddler Treated for OTC with an Innovative Gene Therapy

By Andrew Xia

A 14-month-old boy, Tomas, has recently become the first patient ever to receive a groundbreaking gene therapy treatment for his rare genetic condition called ornithine transcarbamylase (OTC) deficiency. Diagnosed shortly after birth, Tomas faced life-threatening complications from the buildup of ammonia in his blood due to his liver’s inability to detoxify it.

OTC deficiency is a rare disease which affects only about 15 people annually, and its symptoms can lead to brain damage, coma, or seizures if untreated. While treatments like a special diet and ammonia-scavenging medication can help, severe cases often require a liver transplant, which carries significant risks. As such, Tomas’s case was expected to require a transplant until he was enrolled in a clinical trial at Great Ormond Street Hospital in London.

Tomas received a novel gene therapy called ECUR-506, which aims to correct the genetic defect in his liver cells. Delivered via infusion, this therapy uses precise gene insertion to restore a functioning OTC gene. Six months after treatment, Tomas no longer required medication or a special diet, and his condition has improved dramatically.

Tomas’s parents are grateful for the therapy, which has provided an alternative to the risky transplant. Experts are hopeful that this breakthrough could pave a bright future for the treatments of genetic and rare diseases. (NHS Foundation Trust)