“Pop-up” studies: Observational studies in Huntington disease conducted at annual family convention

Background: Huntington ’s disease (HD) is a rare trinucleotide repeat disorder caused by mutation in Huntingtin gene. Availability of biomarkers that track disease progression is of crucial value. Rare disease patient advocacy organizations host annual conventions attended by large number of motivated and engaged famili es creating research opportunities. CHDI, a nonprofit organization dedicated to HD research, conducted “pop-up” observational studies, akin to pop-up stores that open suddenly and exist for short duration, at an annual lay organization convention in 2022 and 2023.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research