In a historic medical breakthrough, doctors have successfully used gene-editing therapy to treat an infant born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency. The rare genetic disorder affects one in 1.3 million babies and can be fatal within the first week of life, with survivors suffering from severe mental and developmental delays.
KJ Muldoon, a six-month-old infant born in August 2024, was diagnosed with CPS1 deficiency after birth. His parents, Nicole and Kyle Muldoon, connected with Dr. Rebecca Ahrens-Nicklas and Dr. Kiran Musunuru to develop a custom therapy that targeted the genetic mutation in KJ’s liver.
Within six months, thanks to their research collaboration, doctors created a customized gene-editing treatment for KJ, which involved infusing billions of microscopic gene editors into his body. The treatment showed promising results, with no serious side effects reported after three doses.
The breakthrough is significant as it offers hope for other families affected by ultra-rare diseases. Dr. Ahrens-Nicklas hopes that this methodology can be scaled to benefit individual patients, while Dr. Musunuru sees this as a transformative moment in medicine, paving the way for the widespread use of gene therapy.
With KJ’s improved condition and development, his parents are now enjoying quality time with their son and siblings at home. This medical breakthrough demonstrates the potential of collaboration between researchers and clinicians to create personalized treatments that can improve patients’ lives.
Source: https://people.com/gene-editing-therapy-treat-baby-rare-disorder-11735965