F10 Racial differences in indices of disease burden in huntington disease

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 93; no. Suppl 1; p. A40
• Main Authors: Buchanan, Danielle A, Osigwe, Elicia C, Pfalzer, Anna C, Yan, Yan, Kang, Hakmook, Claassen, Daniel O
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 12.09.2022; BMJ Publishing Group LTD
• Subjects: F: Clinical studies: case reports, observational studies and trials; Huntingtons disease; Race; Racial differences; SDMT (symbol digit modalities test); SWRT (stroop word reading test); TFC (total functional capacity); TMC (total maximal chorea); TMS (total motor score)
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp-2022-ehdn.101

IntroductionWhile Huntington’s disease (HD) disproportionately impacts those of European descent, greater awareness has encouraged increased counseling and diagnoses in Black, Hispanic, and Asian patients. This study aims to identify indices of disease burden and progression in HD among race groups.MethodsData from Enroll-HD periodic data set 5 was used to assess racial differences in HD patients at baseline and longitudinally. A data set of over 20,000 participants was reduced to 624 participants to account for disproportionate sample size per racial group. The race groups were matched by CAP score, using Asian, the group with the smallest sample size, as the base group. All other groups were matched by a 1:1 or 2:1 ratio depending on the available sample size. HD progression was measured by cognitive, motor, and functional scales. We performed logistic regression and mixed effect model analyses to assess longitudinal progression, controlling for age and CAG repeats.ResultsCompared to White participants at baseline, Black participants had greater severity in several clinical markers: TMS (p=0.0003), TMC (p=0.0013), TFC (p=0.02), SWRT (p=0.002), SDMT (p=0.0007), and c-UDHRS (p=0.0003).ConclusionsWe note that Black participants in Enroll-HD at baseline have increased disease severity compared to other races. There are no differences in disease progression among racial groups over time. We suspect that these findings reflect either delayed diagnosis of Black participants or a selection bias to clinical research for participants with greater disease burden. Our analyses are limited by a paucity of non-European participant data. We suggest revising the self-identification of race in Enroll-HD.