
An investigation by Science and Retraction Watch has uncovered details about a clinical trial that resulted in the death of its sole patient: a 6-year-old girl with a rare genetic mutation affecting her cognitive development. Her death has never been reported publicly, even though the medical team published its preclinical work in Nature earlier this year. Also omitted from the paper and trial records: The family paid more than $800,000 to fund the therapy’s development. The family has asked the authors to withdraw the paper, and experts we spoke to raised issues they say may warrant a retraction. The beginning of the story, by Retraction Watch contributing writer Brendan Borrell, is below, lightly edited for brevity. Read the full story at Science.
The 6-year-old girl tugged on her mother’s hand as they pressed through the doors of the hospital in Shanghai. Behind them, her father rolled a large suitcase with everything the child needed for the weeklong stay. She told her parents it felt like they were going on vacation. In fact, they brought her here for an experimental gene therapy.
The girl was slipping behind her peers in kindergarten. She still spoke in simple sentences and ate with training chopsticks. Underneath it all was a single mutated DNA base, a T that should have been a C.
“Your ‘book’ has a small mistake, which has caused you to have a disease that affects your growth,” read the children’s version of the informed consent form from the hospital. “Over time, it can get more serious.”
Doctors hoped to repair that mistake while her brain was still building itself. It would be a clinical trial of one, funded in part by $860,000 the parents had scraped together from their own savings and from relatives.
Continue reading Exclusive: A couple paid more than $800,000 for a gene-editing therapy for their daughter. She died, and it wasn’t made public







