Chinese researchers concealed the death of a girl after experimental gene therapy
The parents of the minor, who had financed all the research that culminated in the fatal injection of a virus, denounce malpractice
BarcelonaThe race for gene therapy and the desperation of some parents have ended up costing the life of a six-year-old girl in China. The minor, named Mei – a fictional name to preserve the family's privacy – died at Xinhua Hospital in Shanghai in March 2025 due to thrombotic microangiopathy – that is, the formation of deadly microscopic clots – seven days after receiving an injection of a virus at the base of her spine. The parents had opted for this therapy after learning that their daughter had an alteration of the CHD3 gene, which caused her a syndrome compatible with autism and a consequent delay in physical and cognitive development.
The case now comes to light following an investigation published by the journal Science and the portal Retraction Watch. The information provided by the parents, Jason and Linda – also fictional names to preserve their privacy – has cast suspicion on a scientific article related to the case. They denounce the lack of transparency from the researchers, the scarcity of information provided, and the absence of accountability. After having invested $860,000, from their savings and their relatives, they are now seeking justice.
A symptomatology that did not require gene therapy
After years of behaviors that aroused suspicion and a global developmental delay, Mei underwent a battery of tests at the children's medical center in Shanghai. The results revealed an alteration in the CHD3 gene that caused Snijders Blok-Campeau syndrome, a rare disease for which only 237 cases have been documented worldwide. Hers was a mild case. Geneticist Gemma Marfany (UB) recalls that the child did not have a fatal illness and that "she could have enjoyed life," despite cognitive difficulties, so the risk of treatment was particularly difficult to justify.
After a long journey through speech therapists, therapists, and special education services, the parents decided to contact Zilong Qiu, a neuroscientist who was competing internationally to develop genetic base editors applied to personalized treatments for children with rare diseases. With the precedent of K.J. Muldoon – the baby with a life-threatening metabolic disorder who had been successfully treated in Philadelphia – they trusted Qiu, who had gained experience in the United States investigating Rett syndrome.
Qiu, who was recorded by the parents during numerous conversations, encouraged them to invest in research with the promise of achieving "a real treatment." The desperate family ended up investing over $800,000 in a therapy that consisted of administering a virus into the cerebrospinal fluid. Marfany maintains that the researchers specifically sought a family that fit this personalized therapy project (N=1) and that the parents "were deceived" after investing all their savings.
By the end of 2024, the first trials in mice began to yield promising results. But, unlike the case of K.J. Muldoon, this time it was necessary to reach the brain, and the researchers opted to administer the treatment through the spinal canal. The results were sufficient for them to send a manuscript to Nature and convince the ethics committee of Xinhua Hospital to authorize experiments on monkeys.
However, four of the experts tasked with reviewing the data from primate trials expressed serious doubts about the quality of the research. Some even accused the researchers of "obvious data manipulation or image retouching." Furthermore, all four treated monkeys developed moderate to severe liver damage. Both Marfany and Lluís Montoliu (CNB-CSIC) emphasize that these results already indicated significant risks before proceeding to humans. "There are no shortcuts in the development of therapies," summarizes Montoliu, who considers preclinical studies essential for anticipating complications.
The problem also had a regulatory dimension. The trial relied on a legal loophole in the Chinese system that allows certain studies initiated by researchers from hospitals to bypass strict review by national drug regulators. In addition, Xinhua Hospital authorized the trial with Mei without having reviewed the final report of the primate safety studies.
On March 24, 2025, a doctor inserted a needle between two vertebrae in Mei's lower back, extracted cerebrospinal fluid, and injected the virus into her spinal canal. Three days later, she developed a fever. She stopped urinating because her kidneys had been severely affected, and her platelet count plummeted. According to Marfany, death resulted from an extreme immune response triggered by the large amount of virus administered, a risk that previous experiments had already suggested. The informed consent described this sequence of complications but did not warn of the risk of death.
On March 31, Mei died. The hospital's own ethics committee concluded that the death was "definitively related" to the treatment. Marfany believes the case violates the four basic principles of bioethics: non-maleficence, because the treatment caused death; beneficence, because the potential benefit did not outweigh the risk; autonomy, because the parents did not receive all the necessary information; and justice, because the family funded a significant portion of the research without even being recognized.
After a death that several experts consider avoidable, the case was surrounded by profound institutional silence: a fine of only $3,600 to the hospital, no relevant sanction for the main researchers, no compensation for the family, and a subsequent publication in Nature that completely omitted the girl's death. Marfany denounces that the sources of financing and possible conflicts of interest were also eliminated from the final version, a "malpractice" that he attributes to the race to be the first. Montoliu insists that personalized treatments can save lives when developed correctly, as in the case of K.J. Muldoon. Finally, biologist Marc Güell (UPF) defends that these new precision medicines can "transform dreams into reality", but only if they are developed with "maximum transparency" and respecting all safety protocols.
