Disease Burden of Huntington's Disease (HD) on People Living with HD and Care Partners in Canada.

BACKGROUND: Huntington's disease (HD) has been shown to reduce health-related quality of life (HRQoL) and affect healthcare resource utilization (HRU) among patients and care partners internationally but has not been studied specifically in the Canadian context. OBJECTIVE: To characterize the burden of HD on individuals with HD and care partners of individuals with HD in Canada. METHODS: An online survey was distributed (September 14-November 23, 2020) through patient organizations to collect data on demographic and clinical characteristics, as well as: HRQoL, measured using the 36-Item Short-Form Health Survey (SF-36v1); HRU, measured using the Client Service Receipt Inventory (CSRI); and care partner burden, measured using the Caregiver Strain Index (CSI) and Huntington's Disease Quality of Life Battery for Carers (HDQoL-C). Descriptive statistics were used to report data and compare subgroups. RESULTS: A total of 62 adult individuals with HD (or their proxies) and 48 care partners met defined eligibility criteria. The mean [standard deviation] age was 51.2 [13.8] and 58.1 [13.9] years for individuals with HD and care partner respondents, respectively. For individuals with HD, the greatest HRQoL burden (i.e., lowest score) was for the SF-36v1 Role -Physical scale (46.8 [42.9]). HRU was higher for some services (e.g., general practitioner visits) for respondents who had experienced motor onset transition. Among care partners, 55.3% experienced high strain, as indicated by the CSI. The HDQoL-C showed the greatest HRQoL burden in feelings about life (45.1 [17.9]). CONCLUSION: This study quantified the substantial burden on individuals with HD and care partners in Canada, addressing a critical knowledge gap that can affect the availability of and access to healthcare services.

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.

Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy.

ABSTRACT: Spinal muscular atrophy is a heterogeneous disease that results in loss of motor function. In an evolving treatment landscape, establishing the suitability and limitations of existing motor function scales and patient-reported outcomes used to monitor patients with this disease is important. A systematic review was conducted to examine utility of motor function scales and patient-reported outcomes in evaluating patients with spinal muscular atrophy. Published literature was reviewed up to June 2021 with no start date restriction. Of the reports screened, 122 were deemed appropriate for inclusion and are discussed in this review (including 24 validation studies for motor function scales or patient-reported outcomes). Fifteen motor function scales and patient-reported outcomes were identified to be commonly used (≥5 studies), of which 11 had available validation assessments. Each instrument has its strengths and limitations. It is imperative that the patient population (e.g., age, mobility), goals of treatment, and outcomes or endpoints of interest be considered when selecting the appropriate motor function scales and patient-reported outcomes for clinical studies.

Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada.

AIMS: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease associated with the degeneration of motor neurons in the brainstem and spinal cord. Studies examining the epidemiology and economic impact of SMA are limited in Canada. This study aimed to estimate the epidemiology as well as healthcare resource utilization (HRU) and healthcare costs for children with SMA in Alberta, Canada. MATERIALS AND METHODS: We conducted a retrospective study using anonymized data from administrative healthcare databases provided by Alberta Health. Data from 1 April 2010 to 31 March 2018, were extracted for patients <18 years of age identified with SMA. Five-year incidence and prevalence were calculated for cases identified between 1 April 2012 and 31 March 2017. HRU and healthcare costs were assessed one year after SMA diagnosis, including hospitalizations, physician visits, ambulatory care visits and long-term care admissions. RESULTS: The five-year incidence and prevalence of pediatric onset SMA were 1.03 per 100,000 person-years and 9.97 per 100,000 persons, respectively. General practitioner, specialist, and ambulatory care visits were common among children with SMA in the first-year post-diagnosis. The mean (SD) total annual direct cost per patient in the first-year post-diagnosis was $29,774 ($38,407); hospitalizations accounted for 41.7% of these costs ($12,412 [$21,170]), followed by practitioner visits at 32.3% ($9,615 [$13,054]), and ambulatory care visits at 26.0% ($7,746 [$9,988]). CONCLUSIONS: Children with SMA experience substantial HRU, particularly for hospitalizations and practitioner visits, following diagnosis. Given the high costs of SMA, timely access to effective treatment strategies, such as the novel survival motor neuron (SMN)-restoring treatments recently approved for use, are needed to improve health outcomes and HRU.