Ataxias are a group of disorders that affect balance, coordination, and speech, with symptoms and severity varying widely across specific types. Hereditary ataxias (HAs) are a rare type of ataxia that are caused by genetic mutations inherited through parents. This study will examine Friedrich’s ataxia, ataxia-telangiectasia, and “unspecified” hereditary ataxias.
How quickly a patients’ disease gets worse depends on the type of ataxia, and may remain relatively stable or improve with time. However, most patients find their symptoms get progressively worse over time, impacting their life expectancy considerably. Some patients live into their 50/60s, though with some HAs, the condition can be fatal well before adulthood is reached.
There is no cure for HA and instead, treatment is focused on symptom relief and control, including speech and language, occupational, and physical therapies, along with medications to control symptoms affecting the nervous system, the heart, and patients’ vision.
We know that HAs take a lot of healthcare resource to manage, such as the specialist care and therapies above, it isn’t well known if anything specific causes this, and which of the HAs are the most burdensome to the NHS and to patients themselves throughout the course of their life.
This study describes the current treatment pathways for HA patients in England, examining how and when patients are treated with different therapies. An understanding of this will allow for the prioritisation of healthcare resources to improve the outcomes of HA patients, and for a greater understanding of their needs throughout their life.
Hereditary ataxias (HAs) are a heterogenous group of genetic diseases typically characterised by disordered movement, including eye, speech and hand movement and are usually associated with some form of atrophy of the cerebellum. This study, due to limitations in the data, will stratify patients into one of; Friedrich’s ataxia, ataxia-telangiectasia, and “other hereditary ataxias” as coded in CPRD Aurum data by clinicians.
Current clinical standards of care for the HAs are centred around providing assistance for coordination problems through physical and occupational therapies. There is clearly a significant unmet need for therapies with sustained clinical benefits, and with several novel therapies are under investigation, there is a need to better understand the burden of care and HA-related healthcare resource usage (HCRU) of patients throughout their entire clinical pathway.
The primary objective of this study is to describe the clinical pathway of a cohort of patients diagnosed with HAs, including the time to progression of their disease, and survival time by using linked primary, secondary, and death data in England. The secondary objective is to describe the HCRU of HA patients across primary and secondary care, within each of the different ataxias of interest.
The demographics and clinical characteristics of HA patients will be described, in addition to estimating their HCRU across primary and secondary care, including treatment specialities in secondary care and the staff-type in primary care, as well as sequencing of therapies and outcomes. Time to disease progression (defined as dependence on a wheelchair or ambulatory devices) and death will be described using Kaplan-Meier estimates.
This study will use CPRD Aurum data linked to HES and ONS death data, with death data. CPRD-HES-ONS linkage allows for a description of clinical outcomes, and HCRU across both primary and secondary care, ensuring the full clinical pathway of patients is accurately described.
Total number of HA patients; demographics (Mean and median age on inclusion, age distribution by decade, sex distribution, deprivation, Charlson co-morbidity score distribution, mean and median follow-up, total and mean admitted time, index of multiple deprivation quintile distribution); healthcare resource usage outcomes (GP appointments in primary care, physiotherapy appointments, speech and language therapy appointments, occupational therapy appointments, prescriptions issued in primary care, number of inpatient admissions, inpatient length of stay, admissions to critical care unit, number of outpatient appointments, number of appointments/admissions to a neurology speciality); clinical outcomes (overall survival, diagnoses of cardiomyopathy, dysarthria, dystonia, encephalopathy, amyotrophic lateral sclerosis); time to disease progression (wheelchair dependence and use of assistive devices for ambulation)
Shea O'Connell - Chief Investigator - Parexel International (UK) Ltd
Shea O'Connell - Corresponding Applicant - Parexel International (UK) Ltd
Anna Mourskaia - Collaborator - PAREXEL International Corporation
Jaime Smith - Collaborator - Parexel International LLC (USA)
HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data;Patient Level Index of Multiple Deprivation