Cerebral adrenoleukodystrophy (CALD) is a rare, progressive, genetic brain disease that primarily presents in young boys, causing loss of neurological function and ultimately leading to early death. Researchers from Massachusetts General Hospital, Boston Children's Hospital, and collaborators have shown that six years after treatment with the first gene therapy approved for CALD, 94% of patients have had no decline in neurological functioning, with over 80% remaining free of major disability. Findings, published in two articles in the New England Journal of Medicine , describe long-term outcomes in those treated with the eli-cel gene therapy, while also highlighting safety concerns about the emergence of blood cancers post-treatment .
"Cerebral adrenoleukodystrophy is a devastating brain disease that strikes children in the prime of their childhood and development," said Florian Eichler, MD, director of the Leukodystrophy Clinic in the Department of Neurology at Massachusetts General Hospital, first author of the paper on long-term outcomes. "When I initially began treating patients with CALD, 80% came into our clinic on death's door, and now the ratio has flipped. We cautiously celebrate that we have been able to stabilize this neurologic disease and give these boys back a fulfilling life, but that jubilation is dampened by the fact that we see malignancy in a subset of these patients.
This is something that we are actively trying to understand and address." In 2022, the U.S.