Modeling Manifest Huntington’s Disease Prevalence Using Diagnosed Incidence and Survival Time

Abstract

<b><i>Introduction:</i></b> Understanding the epidemiology of Huntington’s disease (HD) is key to assessing disease burden and the healthcare resources required to meet patients’ needs. We aimed to develop and validate a model to estimate the diagnosed prevalence of manifest HD by the Shoulson-Fahn stage. <b><i>Methods:</i></b> A literature review identified epidemiological data from Brazil, Canada, France, Germany, Italy, Spain, the UK, and the USA. Data on staging distribution at diagnosis, progression, and mortality were derived from Enroll-HD. Newly diagnosed patients with manifest HD were simulated by applying annual diagnosed incidence rates to the total population in each country, each year from 1950 onwards. The number of diagnosed prevalent patients from the previous year who remained in each stage was estimated in line with the probability of death or progression. Diagnosed prevalence in 2020 was estimated as the sum of simulated patients, from all the incident cohorts, still alive. <b><i>Results:</i></b> The model estimates that in 2020, there were 66,787 individuals diagnosed with HD in the 8 included countries, of whom 62–63% were in Shoulson-Fahn stages 1 and 2 (with less severely limited functional capacity than those in stages 3–5). Diagnosed prevalence is estimated to be 8.2–9.0 per 100,000 in the USA, Canada, and the 5 included European countries and 3.5 per 100,000 in Brazil. <b><i>Conclusion:</i></b> The modeled estimates generally accord with the previously published data. This analysis contributes to better understanding of the epidemiology of HD and highlights areas of uncertainty.

Another Perspective on Huntington’s Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD

“…To investigate the disease burden in caregivers and premanifest HD patients, we took advantage of the largest database of HD patients and analyzed the global ENROLL-HD registry study, using N = 21,116 participants from periodic dataset five. Manifold research approaches have been attempted within the last few years, focusing on the course of the disease in manifest HD patients or investigated prevalence data, biomarkers, and outcome measures in motor-manifest and premanifest HD within the clinical research platform [ 6 , 35 , 36 , 37 , 38 , 39 ]. With our research, we changed the focus to a large cohort of more than n = 2300 participants included as family controls—coming from the direct family environment of an affected HD patient—and a further n = 2640 participants implemented as genotype-negative HD as a control group.…”

CRISPR and iPSCs: Recent Developments and Future Perspectives in Neurodegenerative Disease Modelling, Research, and Therapeutics

“…A recent study aiming to develop and validate a model for the purpose of estimating the diagnosed prevalence of HD propounded that HD prevalence is increasing with time (Crowell et al 2021 ). Therefore, it is essential that we develop better therapeutic approaches to manage and eventually cure HD.…”

Sleep Quality and Related Clinical Manifestations in Huntington Disease

“…Huntington disease (HD) is a rare, genetic, neurodegenerative disorder affecting people worldwide, with a prevalence of approximately 10 cases per 100,000 people and higher rates in North America, Western Europe, the Middle East and Australia [ 1 , 2 ]. It is caused by an expanded CAG repeat mutation, which contributes to neurological aging at onset [ 3 ].…”