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When baby KJ was born with a rare disease, which could cause a potentially fatal amount of ammonia to build up in his body, damaging his organs in the process, his parents were told he would require a liver transplant when he was old enough, and would need a restricted diet and frequent hospital monitoring in the meantime.
Then, they were approached by medical researchers at the Children’s Hospital of Philadelphia (CHOP) and Penn Medicine, with the potential for KJ to receive ground-breaking gene therapy treatment.
The catch? He would be the first baby born with this condition – severe carbamoyl phosphate synthetase 1 (CPS1) deficiency – to be treated in this way, and the treatment would be totally bespoke to KJ and his condition.
Penn Medicine
Of course, KJ’s parents took the plunge and signed their son up for this futuristic treatment, known as CRISPR (clustered regularly interspaced short palindromic repeats)-based gene editing, which aims to selectively identify and modify the human genome to heal genetic health conditions.
Since the choice was try the therapy, or wait until KJ was old enough for a liver transplant, major surgery for a child – by which time his young body could have been subject to potentially brain-damaging or even fatal amounts of ammonia build-up – the way forward was obvious, as KJ’s mother, Nicole Muldoon, explained in a Penn Medicine statement:
“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.”
Thus, KJ received his first treatment in February 2025, with doses following in March and April 2025, with encouraging results, as the medical researchers explained in their new paper, recently published in the New England Journal of Medicine.
Penn Medicine
It is hoped that KJ’s treatment will pave the way for future patients to receive bespoke, genome-editing treatment as a matter of course – something that is currently prevented by the complexity of developing such treatment for each individual genetic, disease-causing variation. However, with the success of KJ’s treatment, the field has taken a leap in the right direction, as Dr Rebecca Ahrens-Nicklas explained in the statement:
“Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible, and while KJ 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.”
Such treatment is currently being used to treat sickle cell disease and beta thalassemia, showing that with such attention to detail and positive results, gene therapy really could be an effective way forward for patients with similar conditions, as Dr Kiran Musunuru continued:
“We want each and every patient to have the potential to experience the same results we saw in this first patient, and we hope that other academic investigators will replicate this method for many rare diseases and give many patients a fair shot at living a healthy life. 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.”
KJ will be monitored throughout his life to determine the true success of the pioneering CRISPR treatment, but for now the results are so promising that the doctors are feeling increased hope for a future in which babies born with these rare conditions are treated quickly and successfully.
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Categories: SCI/TECH
Tags: · CRISPR, CRISPR Babies, gene therapy, genetic disorder, life-threatening condition, liver transplant, medical research, medicine, Penn Medicine, rare condition, science, single topic, technology, top