Prevalence and burden of pain across the entire spectrum of Huntington's disease.

BACKGROUND: Pain is an important symptom in Huntington's disease (HD), however, not systematically studied and understood. The objective of the current study is to assess the prevalence of pain, pain interference in daily activities, painful conditions, analgesic use and the severity of the pain burden across different disease stages and 'Age at symptom Onset' groups. Additionally, the association between pain and disease burden was investigated. METHODS: A cross-sectional analysis was conducted within two large data sets, which included different types of pain scales. Multivariable logistic regression analyses and analyses of variance were performed to compare the pain levels with those in the general population. The analyses were adjusted for sex and age. Locally Estimated Scatterplot Smoothing was used to test the association between pain and the HD pathology score: a measure of disease burden. RESULTS: The mean prevalence of pain in the HD population was 40% and for pain interference around 35% in both data sets. Patients in the early, middle and late stage of HD experience more pain burden compared with what is reported in patients with chronic pain (p<0.01). A positive and significant association was demonstrated between pain and disease burden. Patients in late stage HD with pain use significantly less analgesics compared with the general population (5% vs 13%, respectively (p<0.01)). CONCLUSIONS: Pain is a prevalent and important symptom in HD. Severe pain burden in the HD population is present and positively associated with disease burden. Risk for undertreatment with analgesics is nevertheless present. Awareness of pain in HD needs to be increased, both clinically and scientifically.

Economic Burden of Huntington's Disease in China: Results from a National-Wide Cross-Sectional Study.

BACKGROUND: Huntington's disease (HD) poses a significant socio-economic burden globally. Existing research on HD's economic burden predominantly comes from Western settings, leaving a gap in data from Asian countries. This study aimed to assess the economic burden of HD in China and identify cost-driving factors. METHODS: This study used data from a 2019 nationwide cross-sectional survey of individuals affected by rare diseases in China. Data included socio-demographic characteristics, income, disease stage, health and social insurance coverage status, treatment-seeking behaviour, and costs. Logistic regression and linear regression were used to explore potential contributors to treatment-seeking behaviour and associated costs. RESULTS: Of the 269 individuals with HD included in this study, 80.6% were actively seeking treatment. The average annual direct medical cost, direct non-medical cost, and indirect cost were 3,265.65, 805.82, and 801.97 Euros, respectively. Compared to participants with early-stage HD, those with middle- or advanced-stage HD reported higher direct medical costs (coefficient 1,612.70, 95% confidence interval [CI]: [141.92, 3,083.48] and 2,398.58, 95% CI: [791.16, 4,006.00], respectively). However, the disease stage was not significantly associated with direct non-medical costs or indirect costs. CONCLUSIONS: This study provides crucial insights into the economic burden of HD in China. It emphasises a need for targeted policies that better cater to the financial needs of HD patients.

A Cost Model for Neurological Diseases in Puerto Rico: Parkinson's Disease, Alzheimer's Disease and Huntington's Disease.

OBJECTIVE: This article proposes an engineering-economics model to determine the total cost of a neurological disease along its temporal progression. The objective was to develop a planning tool faithful to the reality of this type of ailment as well as to that of Puerto Rico (PR). METHODS: The proposed model organizes a given neurological disease into 3 progressive phases of deterioration; in each, the model collects the typical associated costs and adjusts them based on their value over time. This way, the total cost of the ailment is calculated and its present day dollar value expressed. Model verification was carried out using data from Puerto Rico related to Parkinson's, Alzheimer's, and Huntington's diseases. RESULTS: The method demonstrated here considered Parkinson's disease in PR. Our model calculated a total annual cost of $64,915 for a patient at the medium stage. This figure is larger than estimates from other authors, which fall between $41,689 and $51,600 for the USA. This difference is partially due to the proposed model considering the individual's opportunity cost of the loss of productive years, an original contribution of our work. CONCLUSION: A neurological disease is one in which an individual goes through progressive phases of deterioration that will require significant economic resources. The model proposed here is designed across the commonalities between Alzheimer's, Parkinson's, and Huntington's diseases and illustrated using costs from PR. As an additional contribution, it allows the consideration of the opportunity cost of lost productivity, a characteristic that makes it more realistic.

Epidemiology of Huntington's Disease in the United States Medicare and Medicaid Populations.

INTRODUCTION: Huntington's disease (HD) is a rare, genetic, and ultimately fatal neurodegenerative disease, with a devastating impact on individuals and families across generations. Few estimates of HD epidemiology in the United States (US) exist. METHODS: This study employed a retrospective cross-sectional design to examine the epidemiology of HD in the US Medicare and Medicaid beneficiary populations using 2016-2017 claims data from the Medicare 100% Research Identifiable Files (RIFs) and 2014 claims data from the Medicaid Analytic eXtract (MAX) files for 17 states. Medicare beneficiaries ≥65 years with a diagnosis of HD (≥1 claim with ICD-10-CM code G10) in 2017 and Medicaid beneficiaries <65 years with a diagnosis of HD (≥1 claim with ICD-9-CM code 333.4) in 2014 were identified. The study outcomes included the 2017 prevalence proportion and incidence rate of HD in the Medicare population and the 2014 prevalence proportion of HD in the Medicaid population. RESULTS: In the Medicare population, 1,941 prevalent and 819 incident cases of HD were identified in 2017, corresponding to a prevalence proportion of 13.1 per 100,000 persons and incidence rate of 6.1 per 100,000 person-years. In the Medicaid population, 353 prevalent cases of HD were identified in 2014, corresponding to a prevalence proportion of 15.2 per 100,000 persons. CONCLUSION: This study suggests that prevalence and incidence of HD in the US may be higher than previously estimated. This has important implications in raising awareness of HD among providers and payers and ensuring availability of and access to services for HD patients and care partners in the Medicare and Medicaid populations.

Geographic Barriers Drive Disparities in Specialty Center Access for Older Adults with Huntington's Disease.

BACKGROUND: Huntington's Disease Society of America Centers of Excellence (HDSA COEs) are primary hubs for Huntington's disease (HD) research opportunities and accessing new treatments. Data on the extent to which HDSA COEs are accessible to individuals with HD, particularly those older or disabled, are lacking. OBJECTIVE: To describe persons with HD in the U.S. Medicare program and characterize this population by proximity to an HDSA COE. METHODS: We conducted a cross-sectional study of Medicare beneficiaries ages ≥65 with HD in 2017. We analyzed data on benefit entitlement, demographics, and comorbidities. QGis software and Google Maps Interface were employed to estimate the distance from each patient to the nearest HDSA COE, and the proportion of individuals residing within 100 miles of these COEs at the state level. RESULTS: Among 9,056 Medicare beneficiaries with HD, 54.5% were female, 83.0% were white; 48.5% were ≥65 years, but 64.9% originally qualified for Medicare due to disability. Common comorbidities were dementia (32.4%) and depression (35.9%), and these were more common in HD vs. non-HD patients. Overall, 5,144 (57.1%) lived within 100 miles of a COE. Race/ethnicity, sex, age, and poverty markers were not associated with below-average proximity to HDSA COEs. The proportion of patients living within 100 miles of a center varied from < 10% (16 states) to > 90% (7 states). Most underserved states were in the Mountain and West Central divisions. CONCLUSION: Older Medicare beneficiaries with HD are frequently disabled and have a distinct comorbidity profile. Geographical, rather than sociodemographic factors, define the HD population with limited access to HDSA COEs.

Exploring the predictors of financial impairment in Huntington's disease using the Enroll-HD dataset.

OBJECTIVES: Huntington's disease (HD) is a neurodegenerative disease in which cognitive and behavioural symptoms impair the performance of instrumental activities of daily living, including the handling of finances. We sought to determine the prevalence of financial dysfunction in HD, and the demographic and clinical predictors of such impairments. METHODS: We analysed longitudinal data for pre-manifest gene carriers and HD patients from the Enroll-HD dataset. Financial dysfunction was determined by finance-related items in the Total Functional Capacity (TFC) and Functional Assessment (FA) scales. A binary logistical regression model was used to investigate the predictive value of demographic and clinical factors for the development of financial dysfunction. RESULTS: Financial impairment was found to be common in HD gene carriers, and over half required financial assistance within 5 years from diagnosis. Cognitive impairment, apathy, unemployment and disease severity predicted financial dysfunction in manifest patients. For pre-manifest patients, the predictors were proximity to disease onset and depression. CONCLUSIONS: Loss of financial autonomy is common in HD, and cognitive and psychiatric factors are important in its development. Clinicians must be vigilant to identify patients that may be vulnerable to financial exploitation.

Epidemiology and economic burden of Huntington's disease: a Canadian provincial public health system perspective.

AIMS: To evaluate the epidemiology, healthcare resource utilization, and direct healthcare costs associated with Huntington's disease in a Canadian setting with a universal healthcare system. MATERIALS AND METHODS: Using Albertan administrative health data, a retrospective cohort was identified applying an algorithm requiring two HD diagnostic codes within two years, using the first record as the index date (i.e. proxy for diagnosis date), from 1 April 2010 to 31 March 2019 for patients ≥21 years old. Incidence/prevalence measures were evaluated from 1 April 2010 to 31 March 2019, while healthcare resource utilization and healthcare costs per person-year (inflated to 2020 Canadian dollars) were evaluated from index to the end of follow-up (death, moved out of province, or 31 March 2020). RESULTS: Mean [standard deviation] age at index (n = 395) was 53.9 [13.8] years and 53.7% were female. From 2010 to 2019, annual HD incidence varied between 0.47 and 1.21/100,000 person-years and HD prevalence increased from 7.25 to 9.33/100,000 persons. The mean number of visits per person-year for general and specialist practitioners was 19.2 [18.8] and 12.2 [25.5], respectively. The mean total all-cause direct healthcare costs were $23,211 [$38,599] per person-year, with hospitalizations accounting for 57.8% of all-cause costs. Costs were higher among individuals with a long-term care stay, a proxy for disease severity. LIMITATIONS AND CONCLUSIONS: This study utilizes administrative health data to describe the epidemiology of HD and utilization of publicly funded care by individuals with HD. While administrative data presents limitations since it is not collected for research purposes, it provides a population-level examination of the burden of HD. There was a substantial economic burden associated with HD in a Canadian setting.

Disparities in Palliative Care Utilization Among Hospitalized People With Huntington Disease: A National Cross-Sectional Study.

BACKGROUND: People with Huntington's disease (HD) often become institutionalized and more frequently die away from the home setting. The reasons behind differences in end-of-life care are poorly understood. Less than 5% of people with HD report utilization of palliative care (PC) or hospice services, regardless of the lack of curative therapies for this neurodegenerative disease. It is unknown what factors are associated with in-patient specialty PC consultation in this population and how PC might be related to discharge disposition. OBJECTIVES: To determine what HD-specific (e.g., psychosis) and serious illness-specific factors (e.g., resuscitation preferences) are associated with PC encounters in people with HD and explore how PC encounters are associated with discharge disposition. DESIGN: We analyzed factors associated with PC consultation for people with HD using discharge data from the National Inpatient Sample and the Nationwide Inpatient Sample (NIS), Healthcare Cost and Utilization Project (HCUP), Agency for Healthcare Research and Quality. An anonymized, cross-sectional, and stratified sample of 20% of United States hospitalizations from 2007 through 2014 were included using ICD-9 codes. RESULTS: 8521 patients with HD were admitted to the hospital. Of those, 321 (3.8%) received specialty PC. Payer type, (specifically private insurer or other insurer as compared to Medicare), income, (specifically the top quartile as compared to the bottom quartile), mortality risk, D.N.R., aspiration pneumonia, and depression were significantly associated with PC in a multivariate model. Among those who received PC, the odds ratio (OR) of discharge to a facility was 0.43 (95% CI, 0.32-0.58), whereas the OR of discharge to home with services was 2.25 (95% CI 1.57-3.23), even after adjusting for possible confounders. CONCLUSIONS: Among patients with HD, economic factors, depression, and serious illness-specific factors were associated with PC, and PC was associated with discharge disposition. These findings have implications for the adaptation of inpatient PC models to meet the needs of persons with HD.

Healthcare Delivery and Huntington's Disease During the Time of COVID-19.

BACKGROUND: Safer-at-home orders during the COVID-19 pandemic altered the structure of clinical care for Huntington's disease (HD) patients. This shift provided an opportunity to identify limitations in the current healthcare infrastructure and how these may impact the health and well-being of persons with HD. OBJECTIVE: The study objectives were to assess the feasibility of remote healthcare delivery in HD patients, to identify socioeconomic factors which may explain differences in feasibility and to evaluate the impact of safer-at-home orders on HD patient stress levels. METHODS: This observational study of a clinical HD population during the 'safer-at-home' orders asked patients or caregivers about their current access to healthcare resources and patient stress levels. A chart review allowed for an assessment of socioeconomic status and characterization of HD severity. RESULTS: Two-hundred and twelve HD patients were contacted with 156 completing the survey. During safer-at-home orders, the majority of HD patients were able to obtain medications and see a physician; however, 25% of patients would not commit to regular telehealth visits, and less than 50% utilized an online healthcare platform. We found that 37% of participants were divorced/single, 39% had less than a high school diploma, and nearly 20% were uninsured or on low-income health insurance. Patient stress levels correlated with disease burden. CONCLUSION: A significant portion of HD participants were not willing to participate in telehealth services. Potential explanations for these limitations may include socioeconomic barriers and caregiving structure. These observations illustrate areas for clinical care improvement to address healthcare disparities in the HD community.

DNA methylation study of Huntington's disease and motor progression in patients and in animal models.

Although Huntington's disease (HD) is a well studied Mendelian genetic disorder, less is known about its associated epigenetic changes. Here, we characterize DNA methylation levels in six different tissues from 3 species: a mouse huntingtin (Htt) gene knock-in model, a transgenic HTT sheep model, and humans. Our epigenome-wide association study (EWAS) of human blood reveals that HD mutation status is significantly (p < 10-7) associated with 33 CpG sites, including the HTT gene (p = 6.5 × 10-26). These Htt/HTT associations were replicated in the Q175 Htt knock-in mouse model (p = 6.0 × 10-8) and in the transgenic sheep model (p = 2.4 × 10-88). We define a measure of HD motor score progression among manifest HD cases based on multiple clinical assessments. EWAS of motor progression in manifest HD cases exhibits significant (p < 10-7) associations with methylation levels at three loci: near PEX14 (p = 9.3 × 10-9), GRIK4 (p = 3.0 × 10-8), and COX4I2 (p = 6.5 × 10-8). We conclude that HD is accompanied by profound changes of DNA methylation levels in three mammalian species.

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center.

BACKGROUND: Clinical care for Huntington's disease (HD) is often provided in experienced centers that provide multidisciplinary care. However, the value of these centers and their uptake by HD families remain unknown. OBJECTIVE: To describe the services provided by a new HD center, including estimates of capture of the population served. METHODS: Retrospective review of a HD Center launched in 2015, including quantitative and qualitative data on clinic visits, demographic and clinical data. RESULTS: We observed a rapid and ongoing growth on the annual number of clinic encounters, with high demand for in-clinic multidisciplinary care. Using census data and estimates of HD prevalence, we determined that we served about 20% of local patients with HD. Most HD patients received pharmacological treatment for psychiatric symptoms, and over half were treated for chorea. About 25% of new HD diagnoses were on patients without family history of HD. Finally, the demand for predictive testing in at risk individuals significantly increased following the press release reporting the successful completion of the Ionis-HTTRx (RG 6042) trial. CONCLUSIONS: This report indicates a high demand for multidisciplinary care by HD families, supporting its value, providing a snapshot of the organization and function of a single center. Furthermore, it demonstrates how dissemination of news related to research advances influence clinical behavior. Reporting similar information from other HD centers to would provide us with a more global view of the status of HD care across multiple geographical areas.

Increased Reporting of Exclusionary Diagnoses Inflate Apparent Reductions in Long-Stay Antipsychotic Prescribing.

OBJECTIVE: Over the two years following the 2012 introduction of CMS's National Partnership, combined rates of schizophrenia, Tourette's, and Huntington's in US long-stay residents increased 12%. We evaluated trends in reporting of these diagnoses for the subgroup of long-stay residents on antipsychotics. METHODS: Retrospective analysis of Virginia Medicaid claims identified annual utilization rates of psychiatric diagnoses for long-stay seniors on antipsychotics. Chi-square analysis compared rates for the year before March, 2012 with the same 12-month period 1 year later. A 5-year pre-existing baseline rate was also obtained. RESULTS: Diagnosis rates for 2011 were unchanged from baseline. Comparing 2011 with 2013, diagnoses rates for schizophrenia, Tourette's, and Huntington's combined increased 40% (p < .0001), primarily because schizophrenia reporting nearly doubled (p < .0001). CONCLUSIONS: For long-stay seniors on antipsychotics, reporting of schizophrenia, Tourette's, and Huntington's began increasing in 2012 and at almost triple the rate CMS described for the general long-stay population. The increased reporting of these diagnoses described by CMS since 2012 appears to be new and concentrated in residents on antipsychotics Clinical Implications: Since antipsychotics prescribed for schizophrenia, Tourette's, and Huntington's are excluded from quality-measure auditing, apparent reductions in inappropriate long-stay antipsychotic use since the National Partnership may be exaggerated.

Suicidal Ideation Assessment in Individuals with Premanifest and Manifest Huntington Disease.

BACKGROUND: Huntington disease (HD) is associated with increased risk of suicide. OBJECTIVE: This study compares suicide ideation in HD to the general population, assesses factors associated with increased prevalence of suicidal thoughts, and compares clinician-rated to self-reported assessments of suicidal ideation. METHODS: We examined 496 participants with premanifest or manifest HD. Clinician-rated suicidal ideation was measured using the Problem Behaviors Assessment - short form. Self-reported ideation was measured using two items from the HDQLIFE Concern with Death and Dying item bank. Independent sample t-tests were conducted to compare the prevalence of suicidal thoughts between our HD sample and the U.S. POPULATION: Logistic regression analyses were used to determine characteristics associated with higher odds of clinically significant suicidal ideation. Kappa agreement coefficients were calculated to evaluate concurrence between clinician-rated and self-reported assessments. RESULTS: Our sample had a significantly higher occurrence of suicidal ideation (19.76%) and suicidal plans (2.1%) than the general population (p < 0.0001). Odds of clinically significant suicidal ideation were 6.8 times higher in females (p = 0.04) on the clinician measure, and Hispanic/Latinos had 10.9 times higher odds than non-Hispanics (p = 0.025) on the self-report measure. Clinician-rated assessment had fair agreement (k = 0.2-0.4) with self-reported assessments, except in early stage HD where there was no overlap in the identification of participants with clinically significant suicidal ideation. DISCUSSION: Assessment for suicidal ideation and clinically significant suicidal thoughts in HD with a multimodal approach that includes clinician-rated and self-report measures is critical at all stages of the disease.

Utilization of Hospice Services in a Population of Patients With Huntington's Disease.

CONTEXT: Although the early and middle stages of Huntington's disease (HD) and its complications have been well described, less is known about the course of late-stage illness. In particular, little is known about the population of patients who enroll in hospice. OBJECTIVES: Our goal is to describe the characteristics of patients with HD who enrolled in hospice. METHODS: This is a retrospective cohort study of electronic medical record data from 12 not-for-profit hospices in the United States from 2008 to 2012. RESULTS: Of the 164,032 patients admitted to these hospices, 101 (0.06%) had a primary diagnosis of HD. Their median age was 57 (IQR 48-65) and 53 (52.5%) were women. Most patients were cared for by a spouse (n = 36, 36.6%) or adult child (n = 20, 19.8%). At the time of admission, most patients were living either at home (n = 39, 38.6%) or in a nursing home (n = 41, 40.6%). All were either bedbound or could ambulate only with assistance. The most common symptom reported during enrollment in hospice was pain (n = 34, 33.7%) followed by anxiety (n = 30, 29.7%), nausea (n = 18, 17.8%), and dyspnea (n = 10, 9.9%). Patients had a median length of stay in hospice of 42 days, which was significantly longer than that of other hospice patients in the sample (17 days), P < 0.001. Of the 101 patients who were admitted to hospice, 73 died, 11 were still enrolled at the time of data analysis, and 17 left hospice either because they no longer met eligibility criteria (n = 14, 13.7%) or because they decided to seek treatment for other medical conditions (n = 3, 3.0%). Of the 73 patients who died while on hospice, most died either in a nursing home (n = 29; 40%) or a hospital (n = 27; 37%). Seventeen patients (23%) died at home. No patient that started in a facility died at home. CONCLUSION: Patients with HD are admitted to hospice at a younger age compared with other patients (57 vs. 76 years old) but have a significant symptom burden and limited functional status. Although hospice care emphasizes the importance of helping patients to remain in their homes, only a minority of these patients were able to die at home.

The Medicinal Chemistry of Natural and Semisynthetic Compounds against Parkinson's and Huntington's Diseases.

Among the diseases affecting the central nervous system (CNS), neurodegenerations attract the interest of both the clinician and the medicinal chemist. The increasing average age of population, the growing number of patients, and the lack of long-term effective remedies push ahead the quest for novel tools against this class of pathologies. We present a review on the state of the art of the molecules (or combination of molecules) of natural origin that are currently under study against two well-defined pathologies: Parkinson's disease (PD) and Huntington's disease (HD). Nowadays, very few tools are available for preventing or counteracting the progression of such diseases. Two major parameters were considered for the preparation of this review: particular attention was reserved to these research works presenting well-defined molecular mechanisms for the studied compounds, and where available, papers reporting in vivo data were preferred. A literature search for peer-reviewed articles using PubMed, Scopus, and Reaxys databases was performed, exploiting different keywords and logical operators: 91 papers were considered (preferentially published after 2015). The review presents a brief overview on the etiology of the studied neurodegenerations and the current treatments, followed by a detailed discussion of the natural and semisynthetic compounds dividing them in different paragraphs considering their several mechanisms of action.

Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey.

BACKGROUND: Little is known about the organization of clinical services for Huntington's disease (HD). OBJECTIVE: To describe how health care services are organized and delivered in HD-clinics taking part in or eligible for the Enroll-HD study. METHODS: In 2014, a 69-item survey was administered to sites taking part in or eligible for the Enroll-HD study. RESULTS: Of 231 sites surveyed, 121 (52.2%) sites in Europe, North America, Latin America, and Oceania responded. Most sites in the sample serve large populations, with 61.1% serving more than 1.5 million people, and a further 33% serving >500,000. Almost all (86.0%) centers see patients from outside their region. The majority of centers (59.7%) follow 50-199 patients, 21.9% care for more than 200. Most centers provide care in all stages of HD, and nearly all review pre-symptomatic cases. Multidisciplinary case reviews are offered in 54.5% of sites, with outreach clinics offered by 48.1%. Videoconferencing and telemedicine are used by 23.6%. Separate consultations for caregivers are offered in more than half of the centers. Most centers (70.4%) report following published guidelines or local care pathways for HD. CONCLUSIONS: Most centers serve a large population and use a multidisciplinary approach. The survey gives insight into factors underpinning HD service delivery globally. There is a need for more in-depth studies of clinical practice to understand how services are organized and how such features may be associated with quality of care.

Interventional differences among Huntington's disease patients by disease progression in commercial and medicaid populations.

BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative disease that spans distinct disease stages over 15-20 years. Various interventions are available which may allow patients to live outside of a nursing home for a longer time. However, little is known about use of these interventions by disease stage and by insurance type. OBJECTIVE: We compared use of interventions among early, middle and late stages of HD in commercial (C) and Medicaid (M) health insurance populations. METHODS: HD patients (ICD-9-CM 333.4) were identified from Thomson Reuters' MarketScan C and M database (2002-2009) and hierarchically grouped into disease stages based upon the presence of defining clinical markers. RESULTS: A total of 1,272 HD patients (752/520 C/M) were identified. While stage distribution was nearly uniform in the C database - 34.0/35.5/34.0% (early/middle/late stage) - in the M population the majority were late stage (74.0%). Overall mean age was similar between C and M populations. Among late-stage patients, more M patients resided in a nursing home (M:73.8% v. C:40.6%) and received hospice care (M:18.4% v. C:11.3%). Physical therapy (PT) and home assistance were the most frequent interventions used by middle-stage patients, however more C patients received PT (C:64.0% v. M:37.1%) while more M patients received home assistance (M:75.3% v. C:53.2%). Among late-stage patients, PT was also higher in the C population (56.3% v. 48.3%). More M patients had assistive devices at home in both middle (M:25.8% v. C:9.7%) and late stages (M:35.6% v.C:23.4%). CONCLUSIONS: Apparent interventional differences emerged which varied by disease stage and insurance type.

Differences between Parkinson's and Huntington's diseases and their role for prioritization of stem cell-based treatments.

The problems of allocation of scarce resources and priority setting in health care have so far not been much studied in the context of stem cell-based therapeutic applications. If and when competitive cost effective stem cell-based therapies are available, the problem of priority setting - to whom should stem cellbased therapies be offered and on what grounds - is discussed in this article using the examples of Parkinson's Disease (PD) and Huntington's Disease (HD). The aim of this paper is to examine the presently known differences between PD and HD and analyze the role of these differences for setting priorities of stem cell-based therapeutic applications to treat these diseases. To achieve this aim, we (1) present the theoretical framework used in the analysis; (2) compare PD and HD in terms of health related and non-health related consequences of these diseases for patients, their relatives and third parties; (3) analyze the ethical relevance of observed differences for priority setting given different values and variables; (4) compare PD and HD in terms of social justice related consequences of stem cell-based therapies; and (5) analyze the ethical relevance of these differences for priority setting given different values and variables. We argue that the steps of analysis applied in this paper could be helpful when setting priorities among treatments of other diseases with similar differences as those between PD and HD.

Huntington's disease: current epidemiology and pharmacological management in UK primary care.

BACKGROUND: Recent debate suggests Huntington's disease (HD) may be more prevalent than previously reported. In addition, relatively little is known about current disease management. This study aims to provide epidemiological data and describe the pharmacological management of HD in the United Kingdom. METHODS: A primary care research database was accessed to identify incident and prevalent HD cases between January 1, 2004, and December 31, 2008. Patients with Read codes denoting a definite diagnosis or possible diagnosis, and undiagnosed patients with a positive family history were identified. A subset of patients with a definite diagnosis and prescribed medication indicating symptom onset was also identified. Epidemiological data were estimated. Pharmacological prescriptions to HD patients from 2004 to 2008 were identified, and prescription frequencies were grouped according to the British National Formulary categories. RESULTS: HD incidence estimates ranged from 0.44 to 0.78 per 100,000 person-years, and HD prevalence ranged from 5.96 to 6.54 per 100,000 of the population. Forty-four percent of pharmacological prescriptions targeted the central nervous system. Nearly half of the HD patients were prescribed antidepressants, and over 40% were prescribed analgesics. CONCLUSIONS: Although prevalence estimates fell short of figures suggested in recent debate, it is feasible that the true prevalence may be much higher than previously reported. Pharmacological management appears to rely heavily on central nervous system drugs and nutrition support. Many of these drugs are prescribed to HD patients for reasons other than the medication's primary use. Further work is required to evaluate the impact of alternative management strategies, such as therapist intervention, counselling, and organisation support, on the patients' quality of life.