Huntington's disease (HD) is an inherited disease caused by a defect in the genetic coding (“mutation”) of a protein called huntingtin. The resulting mutated huntingtin protein harms nerve cells in the brain, disrupting their functioning and leading to their death. Although people with HD are born with the mutation, symptoms typically do not appear until the age of 40-50 years. Signs and symptoms of HD include various emotional and psychiatric problems, uncontrolled movements, and loss of intellectual abilities; these symptoms worsen over time. People with HD usually live for about 20 years after the condition begins. To inform clinical studies for a therapy for HD, a better understanding of the natural course (“natural history”) of the disease is needed. Information about individuals with HD is available, on an anonymous basis, through linkage of the UK’s CPRD database, Hospital Episode Statistics (HES) dataset, and mortality data (ONS). Examining these data is an opportunity to improve knowledge of HD, its progression, and its impact on the health system.
The study aims to describe the natural history, treatment patterns, and healthcare resource utilization (HCRU) of Huntington’s Disease (HD) in the United Kingdom (UK). A cohort of patients with HD and a matched non-diseased cohort will be constructed from linked Clinical Practice Research Datalink (CPRD), Hospital Episode Statistics (HES), and mortality (ONS) data. The clinical characteristics, treatments, and procedures in patients with HD at time of diagnosis, motor-symptom onset, and 3 months before death will be characterized using descriptive statistics. The time to death will be estimated for the incident HD and matched non-diseased cohorts stratified by age strata and sex. A standardized mortality ratio will be calculated by gender and age strata in order to compare the mortality risk of the HD cohort to that of the CPRD population. Total HCRU will also be compared between cohorts to describe the burden of HD on the health system. Finally, a general cohort from the linked datasets will be constructed to calculate the incidence of HD over the study period and the point prevalence at the end of each calendar year, overall and stratified by age, sex, and geographical region.
Motor symptoms
• Healthcare resource utilization
• Time to death after diagnosis and cause of death
• Cognitive symptoms
• Treatment patterns (pharmacological vs. non-pharmacological)
• Psychiatric symptoms
• Comorbities and symptoms
David Evans - Chief Investigator - Roche
Hannah Furby - Corresponding Applicant - Roche
Allison Dillon - Collaborator - Genesis Research LLC
Asif Jan - Collaborator - Roche
Thanos Siadimas - Collaborator - Roche
Camille Perret - Corresponding Applicant - Roche
Lianna Ishihara - Corresponding Applicant - Bristol-Myers Squibb Pharmaceuticals Limited - UK ( BMS )
lianna Ishihara - Corresponding Applicant - Roche
Ajay Patel - Collaborator - Roche
Amale El Ghachi - Collaborator - Roche
Fabian Wiktorowski - Collaborator - Roche
Marcus Hibell - Collaborator - Roche
HES Admitted Patient Care;HES Admitted Patient Care;HES Admitted Patient Care;HES Outpatient;HES Outpatient;HES Outpatient;ONS Death Registration Data;ONS Death Registration Data;Practice Level Index of Multiple Deprivation;Practice Level Index of Multiple Deprivation