Report says Chinese girl died after experimental gene-editing treatment

A six-year-old Chinese girl died last year after receiving an experimental gene-therapy treatment for a non-life-threatening condition, according to an investigation by Science and Retraction Watch.

The report said the girl, given the pseudonym Mei, died a week after receiving a spinal infusion last March of trillions of viruses designed to enter the brain and correct a rare genetic condition that caused mild cognitive impairment. The report said her parents paid more than $800,000 to fund the experiment and were not adequately informed about the risks.

The lead researcher later published a paper on related animal studies in Nature. The paper did not mention Mei, and said only that bridging the gap between preclinical research and clinical translation remained a significant challenge.

The source described the previously undisclosed death as another setback for China's efforts to compete with the United States in biotechnology after the 2018 scandal involving He Jiankui, the biophysicist who secretly produced gene-edited babies.

Mei had Snijders Blok-Campeau syndrome, a rare genetic condition reported to affect 237 people worldwide. The condition is caused by a single mutated DNA base. Most affected people have a normal life expectancy, larger-than-normal heads and varying intellectual deficits. For Mei, the condition meant that at age six she was still speaking in simple sentences and eating with training chopsticks, though speech and occupational therapy was helping.

The trial was led by neuroscientist Zilong Qiu, one of several researchers trying to use base editors, a more precise form of CRISPR gene editing, as custom treatments for children with rare genetic conditions. A month before Mei's treatment, an infant with a life-threatening metabolic disorder successfully received such a treatment at the Children's Hospital of Philadelphia.

Qiu aimed to carry out what the report described as the first gene-editing therapy directed at the brain, rewriting the mutated gene in Mei's neurons so she could make a vital protein. Instead, she died a week later from a severe immune reaction.

Seven experts who reviewed the case details for Science and Retraction Watch said Qiu and his team downplayed the risks and proceeded despite low chances of success. They also called for a full review of data submitted for the Nature paper, saying some findings could justify a retraction.

The case raises questions about whether high-risk treatments should first be tested on patients with nonfatal conditions. The source noted that in 1999, 18-year-old Jesse Gelsinger died after receiving gene therapy for a genetic liver disease despite having a milder form, a case that slowed research in the field for the next decade.