Chinese gene-editing trial death of 6-year-old was undisclosed, report says

A Chinese gene-editing trial death that had not been publicly disclosed involved a 6-year-old girl who died after an experimental treatment for a non-life-threatening condition, according to an investigation by Science and Retraction Watch. The report says the case raises new concerns about informed consent, early human testing and China’s push to compete in advanced biotechnology.

The girl, identified by the pseudonym “Mei,” died last year one week after a spinal infusion in March, Science and Retraction Watch reported. The treatment used trillions of viruses intended to enter the brain and correct a rare genetic mutation linked to mild cognitive impairment, according to the investigation.

Mei’s parents paid more than $800,000 to support the experiment, but the investigation found they were not adequately told about the risks. The report attributed the trial to neuroscientist Zilong Qiu.

What happened in the Chinese gene-editing trial death?

According to Science and Retraction Watch, Mei had Snijders Blok-Campeau syndrome, a rare condition reported to affect 237 people worldwide. The condition is caused by a single DNA-letter change, described in the report as a T where a C should be.

Most people with the syndrome have normal life expectancy, larger-than-usual heads and varying levels of intellectual disability, the investigation said. In Mei’s case, the report said she was speaking in simple sentences at age 6 and using training chopsticks to eat, while speech and occupational therapy were helping her.

The experimental therapy was designed to edit the mutation in neurons so Mei could make a needed protein, according to Science and Retraction Watch. Instead, the report said, she died from a severe immune reaction a week after receiving the spinal infusion.

Why the case is drawing scrutiny

Science and Retraction Watch reported that Qiu later published related animal research in Nature without mentioning Mei’s death. The paper said that moving from preclinical work to clinical use remained a major challenge, according to the investigation.

Seven experts who reviewed details of the case for Science and Retraction Watch said Qiu and his team minimized the risks and proceeded despite limited chances of success. The experts also urged a full review of the data submitted to Nature, saying some findings could support retracting the paper, according to the report.

The treatment involved base editing, which the report described as a more precise form of CRISPR gene editing. Base editors aim to change individual DNA letters, a feature that has made them a focus for researchers developing custom therapies for rare genetic diseases.

The investigation said Qiu was seeking the first gene-editing therapy aimed at the brain. It also noted that, one month before Mei’s treatment, an infant with a life-threatening metabolic disorder had received a similar type of custom treatment at Children’s Hospital of Philadelphia.

What questions does the case raise?

The case puts renewed attention on whether high-risk gene-editing experiments should begin with patients whose conditions are not fatal, according to Science and Retraction Watch. Mei’s syndrome was rare and serious, but the report said it was generally associated with normal life expectancy.

The report compared the episode with the 1999 death of Jesse Gelsinger, an 18-year-old who received gene therapy for a liver-related genetic disease while having a milder form. That death slowed gene therapy research for years, according to the investigation.

The case also follows China’s 2018 gene-editing scandal involving He Jiankui, the biophysicist who secretly created gene-edited babies, as described in the report. Science and Retraction Watch said Mei’s previously undisclosed death adds pressure to a field already trying to balance rapid scientific progress with patient safety.

This story draws on original reporting from Medical Xpress.