New system that defines Huntington’s Disease will ’revolutionise’ drug trials

A novel staging framework that assesses the progression of Huntington's disease (HD), similar to the way cancer is staged 0 to 4, has been developed by UCL scientists as part of an international consortium; paving the way for clinical trials of drugs in the earliest stages of HD. HD is a progressive and devastating genetic (inherited) neurodegenerative disorder, that affects about 1 in 10,000 people in the UK. There are currently no approved therapies that can slow the disease progression. The Huntington's Disease Integrated Staging System (HD-ISS) groups together people with HD (PwHD) according to their underlying biological (including genetic), clinical, and functional characteristics. It is the first time ever a staging system has been developed for a genetic neurological condition. Published in The Lancet Neurology, the new evidenced-based framework, also includes criteria to biologically define HD stages across the whole trajectory of the disease from birth, which has never previously been done before. The HD-ISS staging criteria covers the entire disease spectrum, beginning at Stage 0 (individuals with the HD genetic mutation without any detectable pathological change), Stage 1 (subsequent progression marked by measurable indicators of underlying pathophysiology via biomarkers), Stage 2 (a detectable clinical phenotype), and finally Stage 3 (decline in function).