Natural history and burden of Huntington's disease in the <scp>UK</scp>: A <scp>population‐based</scp> cohort study

Furby, Hannah; Siadimas, Athanasios; Rutten-Jacobs, Loes C.A.; Rodrigues, Filipe B; Wild, Edward J.

doi:10.1111/ene.15385

Cited by 12 publications

(7 citation statements)

References 27 publications

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“…Data were broadly comparable in the two databases. Recorded HD incidence and prevalence was slightly higher in CPRD GOLD but trends were very similar in both databases and highly consistent with previous estimates 37–39. Incidence of common cancers showed somewhat different trends in the two databases between 1990–2000, but was remarkably similar thereafter and was consistent with national reference rates, particularly when primary care and linked secondary care and mortality data were combined.…”

Section: Discussionsupporting

confidence: 87%

Pooling of primary care electronic health record (EHR) data on Huntington’s disease (HD) and cancer: establishing comparability of two large UK databases

Dedman,

Williams,

Bhaskaran

et al. 2024

BMJ Open

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ObjectivesTo explore whether UK primary care databases arising from two different software systems can be feasibly combined, by comparing rates of Huntington’s disease (HD, which is rare) and 14 common cancers in the two databases, as well as characteristics of people with these conditions.DesignDescriptive study.SettingPrimary care electronic health records from Clinical Practice Research Datalink (CPRD) GOLD and CPRD Aurum databases, with linked hospital admission and death registration data.Participants4986 patients with HD and 1 294 819 with an incident cancer between 1990 and 2019.Primary and secondary outcome measuresIncidence and prevalence of HD by calendar period, age group and region, and annual age-standardised incidence of 14 common cancers in each database, and in a subset of ‘overlapping’ practices which contributed to both databases. Characteristics of patients with HD or incident cancer: medical history, recent prescribing, healthcare contacts and database follow-up.ResultsIncidence and prevalence of HD were slightly higher in CPRD GOLD than CPRD Aurum, but with similar trends over time. Cancer incidence in the two databases differed between 1990 and 2000, but converged and was very similar thereafter. Participants in each database were most similar in terms of medical history (median standardised difference, MSD 0.03 (IQR 0.01–0.03)), recent prescribing (MSD 0.06 (0.03–0.10)) and demographics and general health variables (MSD 0.05 (0.01–0.09)). Larger differences were seen for healthcare contacts (MSD 0.27 (0.10–0.41)), and database follow-up (MSD 0.39 (0.19–0.56)).ConclusionsDifferences in cancer incidence trends between 1990 and 2000 may relate to use of a practice-level data quality filter (the ‘up-to-standard’ date) in CPRD GOLD only. As well as the impact of data curation methods, differences in underlying data models can make it more challenging to define exactly equivalent clinical concepts in each database. Researchers should be aware of these potential sources of variability when planning combined database studies and interpreting results.

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Section: Discussionsupporting

confidence: 87%

Pooling of primary care electronic health record (EHR) data on Huntington’s disease (HD) and cancer: establishing comparability of two large UK databases

Dedman,

Williams,

Bhaskaran

et al. 2024

BMJ Open

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“…The long follow-up time and complete death recording make this an ideal study to assess mortality in patients with a diagnosis of HD. The median survival time in the AoHD cohort was 12.1 years, which is similar to recent population-based cohort studies of HD in Israel (12 years [42]) and the UK (12.4 years [47]), which also define the index as the first diagnosis in the patient's medical records and take place during a similar time window. Other studies have reported median survival up to 25 years [48][49][50] which may be attributable to the index definition, study methods and accuracy of death reporting.…”

Section: Discussionsupporting

confidence: 81%

Comorbidities and clinical outcomes in adult- and juvenile-onset Huntington’s disease: a study of linked Swedish National Registries (2002–2019)

et al. 2022

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Background Huntington’s disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric symptoms exert a lifelong clinical burden on both patients and their families. Objective To describe the clinical burden and natural history of HD. Methods This longitudinal cohort study used data from the linked Swedish national registries to describe the occurrence of comorbidities (acute and chronic), symptomatic treatments and mortality in an incident cohort of individuals who either received the first diagnosis of HD above (adult onset HD; AoHD) or below (juvenile-onset HD; JoHD) 20 years of age, compared with a matched cohort without HD from the general population. Disease burden of all individuals alive in Sweden was described during a single calendar year (2018), including the occurrence of key symptoms, treatments and hospitalizations. Results The prevalence of HD in 2018 was approximately 10.2 per 100,000. Of 1492 individuals with a diagnosis of HD during 2002 and 2018, 1447 had AoHD and 45 had JoHD. Individuals with AoHD suffered a higher incidence of obsessive–compulsive disorder, acute psychotic episodes, pneumonia, constipation and fractures compared with matched controls. Individuals with JoHD had higher incidence rates of epilepsy, constipation and acute respiratory symptoms. Median time to all-cause mortality in AoHD was 12.1 years from diagnosis. Patients alive with HD in Sweden in 2018 displayed a pattern of increased clinical burden for a number of years since diagnosis. Conclusions This study demonstrates the significant and progressive clinical burden in individuals with HD and presents novel insights into the natural history of JoHD.

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“…The impact of HD on patients and their family members is significant [ 3 – 5 ]. According to a cohort study of medical records of primary care patients in the United Kingdom, a significantly higher relative risk of psychotic disorders, depression, insomnia, dementia, weight loss, pneumonia, and falls was observed in patients with HD compared with the demographically matched general population [ 4 ]. Despite the well-documented substantial disease burden of HD, the benefits of currently available treatments are limited to the management of motor and psychiatric symptoms.…”

Section: Introductionmentioning

confidence: 99%

Health state utility estimates for value assessments of novel treatments in Huntington’s disease: a systematic literature review

Sawant,

Paret,

Petrillo

et al. 2024

Health Qual Life Outcomes

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Background Huntington’s disease (HD) is a progressive neurodegenerative disease with a devastating impact on patients and their families. Quantifying how treatments affect patient outcomes is critical for informing reimbursement decisions. Many countries mandate a formal value assessment in which the treatment benefit is measured as quality-adjusted life-years, calculated with the use of utility estimates that reflect respondents’ preferences for health states. Objective To summarize published health state utility data in HD and identify gaps and uncertainties in the data available that could be used to inform value assessments. Methods We conducted a systematic literature review of studies that used preference-based instruments (e.g., EQ-5D and SF-6D) to estimate utility values for people with HD. The studies were published between January 2012 and December 2022. Results Of 383 articles screened, 16 articles reported utility values estimated in 11 distinct studies. The utility measure most frequently reported was EQ-5D (9/11 studies). Two studies reported SF-6D data; one used time trade-off methods to value health state descriptions (vignettes). Although utility scores generally worsened to a lower value with increased HD severity, the estimates varied considerably across studies. The EQ-5D index range was 0.89 − 0.72 for mild/prodromal HD and 0.71 − 0.37 for severe/late-stage disease. Conclusions This study uncovered high variability in published utility estimates, indicating substantial uncertainty in existing data. Further research is needed to better understand preferences and valuation across all stages and domains of HD symptoms and the degree to which generic utility measures capture the impact of cognitive changes on quality of life.

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Natural history and burden of Huntington's disease in the UK: A population‐based cohort study

Cited by 12 publications

References 27 publications

Pooling of primary care electronic health record (EHR) data on Huntington’s disease (HD) and cancer: establishing comparability of two large UK databases

Pooling of primary care electronic health record (EHR) data on Huntington’s disease (HD) and cancer: establishing comparability of two large UK databases

Comorbidities and clinical outcomes in adult- and juvenile-onset Huntington’s disease: a study of linked Swedish National Registries (2002–2019)

Health state utility estimates for value assessments of novel treatments in Huntington’s disease: a systematic literature review

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