A new study, undertaken with the engagement and participation of Huntington’s Disease (HD) patients and the wider HD community (Patient organisation and leading HD experts), has recently confirmed data lock. The database of the Huntington’s Disease Burden of Illness Study (HDBOI) is available now for interrogation and analysis. Subscribers to the data can draw upon physician and patient reported data for health economic and disease understanding analysis.

The data allows the quantification of the direct medical, direct non-medical and indirect costs (associated with HD, across HD disease stages) for patients and carers. Analysts can also quantify the total annual cost of the disease. Patient stratification by country and disease stage may be undertaken across the global population studied (US and 5EU).

Over 2000 patients have been included in the study, with good representation within the overall sample of early, mid and advanced disease stages. Of the patients included by recruited physicians (again representative of the treating specialist and community physician community) over 500 contributed patient reported data, also over500 caregivers also participated. The data for physician submitted patient records, the patient reported data and carer contribution can be interrogated as connected or discrete populations. Costs included in the database span direct and non-direct medical costs. Indirect and societal costs have also been collected

The study was conducted at a time when an increasing number of HD studies are achieving publication. Studies include investigation into global prevalence of HD* and the therapeutic advances being explored in the pursuit of an effective treatment. This new dataset is an essential compliment to the understanding of prevalence, as it is the first real world evidence study (RWE), conducted with leading patient organisations and under the scientific supervision of the public health faculty of University of Chester.

Populations that employed diagnostic testing of HD have increased their ascertained prevalence measures over the last two decades. The estimated prevalence of HD in North America, North Western Europe and Australia ranges from 5.96 to 13.7 cases per 100 000 population. The ascertained prevalence of HD in Asia is much lower than Western populations. Accurately characterising the prevalence of the condition is necessary to allocate the optimal amount of resources for health and social care resource provision, research funding and psychological counselling.

The aim of the future treatment for HD is to alter the natural history of the disease. Ideally, treatment should start in the pre-symptomatic phase. The ratio of 50% at-risk individuals to symptomatic individuals is either 4.2:1 or 5:1**. There are currently several active clinical trials for drug therapy in HD; if even a single study shows a neuroprotective effect, it is likely that the demand for predictive testing services will markedly increase. Therefore, accurately determining the prevalence of HD, and thereby the at-risk population size, will become increasingly important in the future.

Alongside understanding prevalence is the aligned research needed to elicit clarity and understand deeper patient and carer perspective that is drawn from robust, academically designed and supervised RWE data. The HDBOI study was designed to determine the impact of HD on patients and caregivers health-related quality of life (HRQoL) and socio-economic burden using patients-reported outcomes measurements.

HDBOI is a study that offers value to a number of audiences involved in the search for optimal therapeutic advances in the treatment and symptomatic management of HD. These include the HD Community, Policy Makers, Medical research and practitioners and those focused on the generation of economic and market access evidence.

*Baig, S.S., Strong, M. and Quarrell, O.W.J. (2016) The global prevalence of Huntington’s disease: a systematic review and discussion. Neurodegenerative Disease Management, 6 (4). ISSN 1758-2024

**Conneally PM. Huntington disease: genetics and epidemiology. Am. J. Hum. Genet. 36(3), 506に526 (1984). 8. Tassicker RJ, Teltscher B, Trembath MK, et al. Problems assessing uptake of Huntington disease predictive testing and a proposed solution. Eur. J. Hum. Genet. [Internet]. 17(1), 66に70 (2009). Available from: http://www.nature.com/doifinder/10.1038/ejhg.2008.142.

The HCD Economics HD team has prepared a study overview for presentation to interested potential subscribers. The presentation includes the methodology for proposed analyses to inform health economic interpretation and understanding of HDBOI.

To arrange a one-to-one presentation please contact Alison Rose - alison.rose@hcdeconomics.com