The earliest brain changes due to Huntington’s disease can be detected 24 years before clinical symptoms show, according to a new UCL-led study.

The researchers say their findings, published in The Lancet Neurology, could help with clinical trials by pinpointing the optimal time to begin treating the disease. There is currently no cure for Huntington’s, a hereditary neurodegenerative disease, but recent advances in genetic therapies hold great promise.

Researchers would ultimately like to treat people before the genetic mutation has caused any functional impairment. However, until now, it was unknown when the first signs of damage emerge – but as there is a genetic test for Huntington’s susceptibility, researchers have a unique opportunity to study the disease before symptoms appear.

Ultimately, our goal is to deliver the right drug at the right time to effectively treat this disease – ideally we would like to delay or prevent neurodegeneration while function is still intact, giving gene carriers many more years of life without impairment. As the field makes great strides with the drug development, these findings provide vital new insights informing the best time to initiate treatments in the future, and represent a significant advance in our understanding of early Huntington’s.
Study lead, Professor Sarah Tabrizi (UCL Huntington’s Disease Centre, UCL Queen Square Institute of Neurology)

The Wellcome-funded study, led by UCL researchers in collaboration with colleagues from the University of Cambridge and University of Iowa, investigated a large cohort of Huntington’s mutation carriers at a much younger age than previously examined in detail. 64 people with the mutation took part alongside 67 others without the mutation who served as control subjects for comparison.

We have found what could be the earliest Huntington’s-related changes, in a measure which could be used to monitor and gauge effectiveness of future treatments in gene carriers without symptoms.
Co-first author of the study, Dr Paul Zeun (UCL Huntington’s Disease Research Centre)

Other studies have found that subtle cognitive, motor and neuropsychiatric impairments can appear 10-15 years before disease onset. We suspect that initiating treatment even earlier, just before any changes begin in the brain, could be ideal, but there may be a complex trade-off between the benefits of slowing the disease at that point and any negative effects of long-term treatment.
Co-first author of the study, Dr Rachael Scahill (UCL Huntington’s Disease Research Centre)


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