Reacción a "An investigation alleges that the death of a girl in China was covered up after she was given an experimental gene therapy"

Gene therapy strategies for very rare diseases with severe neurological effects are attracting the attention of many researchers, particularly what is known as ‘n=1’ therapy – that is, therapy targeted at a single patient. Following the successful cure of a baby in the United States in 2025, after receiving a one-off liver treatment for an extremely serious metabolic disorder, China does not want to be left behind. In this case, the original scientific study was made possible thanks to private investment from a Chinese family with an affected daughter, who paid the equivalent of around 800,000 dollars to develop a CRISPR-based therapy using a base editor, delivered intrathecally (into the cerebrospinal fluid) via adeno-associated viruses. Unfortunately, the viral dose was so high that it caused the patient’s death due to an exacerbated inflammatory response.

This case goes beyond human tragedy or bad luck, as there are numerous indications of scientific and bioethical malpractice. Although treatment in mice using a different virus appears to have been effective (though some scientists dispute this), the virus would have had to be changed for use in humans, and trials in four primates showed severe liver and kidney damage, which raises a red flag, as a therapy must, above all, be safe. However, these results were not communicated to the parents before their daughter was treated (thereby limiting their ability to make an informed decision) and have been omitted from the publication; likewise, any reference to the family’s funding, how the mutation was selected, and the fact that a patient who died was treated has also been omitted. Similar to what happened in the case of the girls treated by He Jiankiu in 2018, the rush to be the first to publish an innovative therapy has led researchers to disregard the most basic bioethical principles. Furthermore, with a clear lack of transparency, the Chinese authorities have maintained secrecy and ignored the well-founded complaints of the affected parents. The Chinese government prioritises biomedical innovation, which is handsomely rewarded, and has more lenient regulations for gene therapies compared with those in Europe or the United States. The journal Nature, in which the research on mice was published, is considering whether the publication has adhered to the required bioethical standards.

Gene therapy has always offered hope to many patients with rare genetic diseases, but it carries risks, particularly when viruses are used, as these can trigger an exaggerated immune response. The approach is experimental and, as such, it is not enough to have an excellent technical and scientific approach; one must also adhere impeccably to bioethical principles to ensure every step is sound and to avoid the backlash of mistrust that this generates in society.