The collection of Huntington's Disease positive fetal tissue from elective termination of pregnancy
Huntington's Disease / Posted 1 year ago
Huntington’s disease (HD) commonly begins in mid-life. However, research over the last 20 years has demonstrated that subtle behavioural and cognitive changes can occur 10 years or more before a formal clinical diagnosis is made, and recent studies have demonstrated the presence of changes on brain imaging 20 years prior to predicted onset of the disease in individuals who are clinically completely normal. This has prompted the question “is the brain ever normal in HD?”.
Answering this question and characterising any such changes will be important for
- A full understanding of the genetic and cellular processes leading to the death of specific brain cells in HD
- Revealing new therapeutic targets
- Judging the stage at which various disease-modifying treatments (once available) should be used in clinical trials
With the promise of disease-modifying treatments on the horizon, ranging from drugs to infusions of RNAi/ASOs (molecules to suppress the formation of the toxic mutant HD gene product), it will become increasingly important to understand how long prior to disease onset CNS changes are present, and whether such changes are simply associated with the presence of the mutant gene, or are a direct part of the evolving disease pathology and as such may be modified by treatment.
This becomes an even more important question for treatments with potentially serious side effects, such as RNAi/ASOs, which will need to be given directly into the brain and may also partially suppress the product of the normal HD gene.
One way to assess whether the brain is ever normal in HD is to examine the brain of fetuses donated by women who have elected to terminate their pregnancy following a positive HD diagnosis for their fetus. This project aims to set up a UK network to collect and study such tissue.