A six-year-old girl in China has died after receiving an experimental gene therapy treatment, costing her parents $860,000, a report in Science has revealed. The experimental brain-directed gene editing therapy was administered for a rare genetic developmental disorder, despite concerns about its safety and efficacy.
Concerns Raised Over Experimental Gene Therapy
The treatment, which had not been used in humans prior to this case, was given to the child, referred to as "Mei," for a rare mutation on her CHD3 gene. This mutation causes Snijders Blok-Campeau Syndrome, a condition often associated with intellectual disabilities and impaired speech and language development. Despite her condition not being life-threatening and unlikely to worsen, the family opted for the radical treatment.
Experts have expressed significant reservations about the trial proceeding. Animal studies indicated safety concerns, and medical professionals allegedly downplayed risks, with the possibility of death reportedly not explicitly communicated to the family. Steven Gray of the University of Texas Southwestern Medical Center stated, "This shouldn’t have gone to trial," highlighting the profound ethical questions surrounding the case.
Questions About Research Oversight and Data
The lead researcher, Zilong Qiu, reportedly pursued the therapy with an apparent focus on publishing his findings in a prestigious journal, aiming to be the first to document brain-directed gene editing. Following Mei's death, Qiu published a paper in Nature that reportedly omits any acknowledgment of her case. The Science report suggests a broader issue of capitalizing on desperate families to fund uncertain scientific endeavours.
Concerns have also been raised regarding the data presented to justify the trial. Images of monkey brains, intended to demonstrate the therapy's reach, were described as "completely unconvincing" by external experts. Furthermore, shortly before Mei's treatment, all four monkeys receiving the therapy developed significant liver damage, with one exhibiting kidney damage indicative of a known, potentially fatal reaction to AAV therapy called thrombotic microangiopathy.
Tragic Outcome and Subsequent Investigations
Mei was administered the treatment in March, involving the injection of trillions of viruses into her spinal canal. Within days, she developed a persistent fever and ceased urinating, signs that her kidneys were affected. She was transferred to the ICU and died the following day. An emergency hospital ethics board review concluded that her death was a direct result of the treatment, specifically thrombotic microangiopathy.
The hospital involved was fined approximately $3,600, and the doctor who described the treatment as "relatively safe" received verbal counselling. The family requested that Qiu withdraw his paper to Nature, to which he initially agreed but later became unresponsive. Nature proceeded with publication, and the university affiliated with Qiu, Shanghai Jiao Tong University School of Medicine, has announced a "comprehensive investigation" into the matter, promising "serious action" based on its findings.
