Bespoke gene therapy transforms child’s life

A child born with a life-threatening genetic disorder has been successfully treated using pioneering ethical gene therapy.

Born with carbamoyl phosphate synthetase 1 (CPS1), a rare enzyme deficiency, the child known as KJ responded well to treatment pioneered by the Children’s Hospital of Philadelphia (CHOP) and Penn Medicine.

Patients with CPS1 lack an essential enzyme needed to convert ammonia to urea; over time this can lead to a toxic build-up of the compound in the body, risking organ failure and death.

Groundbreaking

KJ received the first treatment in February, aged between six and seven months, CHOP geneticist Dr Rebecca Ahrens-Nicklas explained.

She added: “While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite promising.” The little boy is reportedly growing well and thriving.

The geneticist observed that although he “is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient’s needs”.

Penn Medicine’s Professor Kiran Musunura commented: “The promise of gene therapy that we’ve heard about for decades is coming to fruition, and it’s going to utterly transform the way we approach medicine”.

Home

Speaking to Penn Today, Mum Nicole Muldoon said: “We would do anything for our kids, so with KJ, we wanted to figure out how we were going to support him and how we were going to get him to the point where he can do all the things a normal kid should be able to do.

“We thought it was our responsibility to help our child, so when the doctors came to us with their idea, we put our trust in them in the hopes that it could help not just KJ but other families in our position.”

Dad Kyle Muldoon added: “We’ve been in the thick of this since KJ was born, and our whole world’s been revolving around this little guy and his stay in the hospital.

“We’re so excited to be able to finally be together at home so that KJ can be with his siblings, and we can finally take a deep breath.”