Baby's life saved: First personalized gene therapy in the USA!

Baby's life saved: First personalized gene therapy in the USA!

A groundbreaking step in the treatment of rare hereditary diseases has been taken in the USA. For the first time, a nine-and-a-half-month-old baby, KJ Muldoon, received personalized genome editing for his life-threatening condition known as CPS1 deficiency. This rare genetic disorder affects a vital liver enzyme that is responsible for breaking down toxic metabolites, which can lead to serious health problems if left untreated. The therapy, which was tailored to KJ's genetic variants, could save his life after his parents were informed of the dire prognosis following the diagnosis shortly after his birth, as Kosmo reports.

The innovative treatment uses the CRISPR-Cas9 technique, which was awarded the Nobel Prize in Chemistry in 2020. This method involves genetic scissors that have the potential to cure genetic diseases by making precise DNA modifications. The treating doctors, including Rebecca Ahrens-Nicklas, were convinced that this never-before-used therapy could offer hope for KJ. In February 2025, the baby received the first infusion of the tailored medication, followed by two further treatments. After therapy, KJ has already made progress; He can now eat more protein-rich food and requires less medication, as t-online adds.

Advances and challenges in gene therapy

The use of CRISPR-Cas9 represents a significant advance in the targeted treatment of genetic disorders. This technology, which originally emerged from bacterial defense mechanisms, allows precise modifications of the genetic material and has already shown success in other areas, such as the treatment of blood diseases or cystic fibrosis. However, the long-term safety and effectiveness of these therapies are still the subject of ongoing research. Comprehensive follow-up of KJ and similar patients will be necessary to make concrete statements about the treatment results.

There are also ethical considerations associated with the development of such personalized therapies. The costs for such treatments are in the tens of millions, which severely limits access. No comparable personalized gene therapy has yet been approved in the European Union, and experts in Austria are urgently calling for a debate about access to these innovative treatments and the ethical issues surrounding them. This is particularly evident in the discussion about the responsibility associated with the application of CRISPR technologies, as mentioned in an overview of the challenges and future prospects of CRISPR-Cas9 technology (PMC).

KJ Muldoon's treatment could potentially pave the way for further innovative therapies and offers hope, not only for affected families, but also for medical research as a whole. The coming period will show how the results of this first personalized gene therapy develop and what impact they will have on future treatment options.