Objective: We tested the assumption that the demographic and clinical spectrum of Huntington’s disease (HD) is fairly similar irrespective of the geographical region of origin of patients. To this end we compared demographic features, genotype and phenotype, and treatment preferences, in HD participants of two large observational HD studies, EHDN’s largely European REGISTRY study and the North American COHORT study. We hypothesised that the two cohorts would be very similar.

Background: In a rare disorder such as HD a global base of clinical trial sites with access to patients speeds up recruitment into clinical trials. To ensure comparability of data from trials it is important to know whether the demographic and clinical spectrum of HD differs between geographical regions.

Methods: REGISTRY cross-sectional data were available from a total of 7398 participants (1125 (15.2%) premanifest, 6273 (84.8% manifest HD). Participants were from 137 study sites in 17 European countries plus from Australia and Singapore. COHORT cross-sectional data from 1499 participants at 44 study sites were available (175 preHD (11.7%), 1324 manifest HD (88.3%). Participants were assessed clinically using the Unified Huntington’s Disease Rating Scale (UHDRS).

Results: There were three main findings. First, demographics, phenotype and HTT genotypes were similar. Second, patients in Europe were prescribed neuroleptics more frequently, and anti-depressants less frequently, than in North America. In either study, participants on anti-dyskinetic medication had higher UHDRS motor scores, worse function assessment scores and worse cognitive scores than those taking anti-depressants or no medication. In contrast, motor, function assessment and cognitive scores were broadly similar in participants taking anti-depressants or no medication. Third, the differences between data obtained with cognitive scales in different languages were small.

Conclusions: Taken together our data suggest that HD patients, and the way they are assessed, are similar across two continents with different cultures and languages.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/demographic-and-phenotypic-comparison-of-huntingtons-disease-in-europe-and-north-america-data-from-registry-and-cohort-two-prospective-observational-cohort-studies/