Gene-Editing Breakthrough: First Successful Treatment for Infant’s Rare Condition

2025-05-16 digitalcare

New York, Friday, 16 May 2025.
A 9½-month-old boy has become the first patient to receive a personalized gene-editing treatment, showcasing the potential to cure rare genetic diseases and highlighting a major leap in precision medicine.

Groundbreaking Treatment Development

KJ Muldoon, born in August 2024 with carbamoyl phosphate synthetase 1 (CPS1) deficiency, received his first customized gene-editing treatment in February 2025 at Children’s Hospital of Philadelphia [1][2]. This rare genetic disorder, affecting approximately one in 1.3 million babies [3], typically results in a 50% mortality rate within the first week of life [4]. The revolutionary treatment was developed in just six months using an advanced form of CRISPR technology called ‘base editing’ [5].

Treatment Implementation and Early Results

The therapy consisted of three infusions containing billions of gene-editors specifically targeting KJ’s liver mutation [6]. By May 2025, the treatment has shown promising results, with KJ requiring less medication and demonstrating improved protein tolerance [7]. Dr. Rebecca Ahrens-Nicklas, director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program at CHOP, presented these groundbreaking findings at the American Society of Gene & Cell Therapy Annual Meeting in New Orleans on May 15, 2025 [8].

Broader Implications for Genetic Medicine

This breakthrough represents a significant advancement in personalized medicine, potentially benefiting millions affected by rare genetic disorders [9]. Dr. Kiran Musunuru of the University of Pennsylvania indicates that while the treatment costs are currently comparable to a liver transplant (approximately $800,000), expenses are expected to decrease as the technology advances [10]. The success of this case has established a new benchmark for treating rare genetic disorders, with researchers worldwide now having a proven framework for developing similar personalized treatments [11].

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