6-year-old girl dies after parents paid $860K for experimental therapy that ‘shouldn’t have gone to trial’ - New York Post

What the report says

The New York Post, citing a new report in Science, says a 6-year-old girl in China identified by the pseudonym “Mei” died after receiving an experimental brain-directed gene-editing treatment for a rare CHD3 mutation associated with Snijders Blok-Campeau syndrome. Her parents reportedly paid the equivalent of about $860,000 to support the work, which was led by researcher Zilong Qiu and involved base editing, a newer form of gene-editing technology that had not previously been used in humans in this way.

According to the Post’s account of Science’s findings, Mei’s condition affected development, speech and learning but was described as mild, nonfatal and not expected to worsen. The proposed therapy required delivery of very large quantities of viral vectors into the spinal canal to reach the brain. Before treatment, animal testing reportedly raised concerns: monkeys given the therapy developed liver injury, and one showed signs consistent with a serious AAV-related complication known as thrombotic microangiopathy.

The Post reports that Mei was treated in March after a doctor characterized the procedure as relatively safe apart from the risk of antibodies to the viral vector. She developed fever and kidney problems within days, was moved to intensive care and died shortly afterward. An emergency hospital ethics board later attributed her death to the treatment and identified thrombotic microangiopathy as the cause, according to the article.

The case has prompted scrutiny of research oversight, consent and the funding of experimental therapies by desperate families. The Post says experts quoted by Science questioned whether the trial should have proceeded and called for review of data in a related Nature paper. Shanghai Jiao Tong University School of Medicine, where Qiu is affiliated, reportedly said it would conduct a comprehensive investigation.