Fragile X syndrome (FXS) is an inherited condition that is associated with cognitive impairment and intellectual disability. Male with FXS are more severely affected than females. The aim of this study is to estimate the proportion of people who have FXS in the UK and to estimate the costs of treating these patients in general practice and hospital. This information is essential for planning National Health Service resources and highlighting and identifying areas for future research and development. Research-quality patients with FXS will be selected by medical codes. The proportion of people having the condition from the 1st of January 2004 to the 31st of December 2020 will be calculated. Patient characteristics at time of diagnosis and overall will be described. The number and cost of primary care consultations, prescriptions, outpatient attendances and inpatient stays will also be presented and compared to those from a matched group from the general population.
Fragile X is a genetic condition that is associated with intellectual disability, cognitive impairment, a distinct physical phenotype and intellectual disability. The aim of this study to estimate the prevalence of FXS and the healthcare resource utilisation and costs associated with the condition. The study period will be from 1st January 2004 to the 31sf December 2020. Patients of acceptable research quality will be selected from the Clinical Practice Research Datalink (CPRD) if they have a record with a diagnosis code for FXS in either the Aurum Observation table or the Hospital Episodes Statistics (HES) admitted patient care dataset. As FXS is present from birth, the start of follow-up will be defined as the patient’s registration date and patients will be followed until the earliest of the patient’s transfer-out date, date of death (if applicable) or last data-collection date for their practice. The presentation date will be defined as that of the patient’s first ever record with a code indicative of FXS. Point prevalence will be calculated for 2020 using the mid-year Aurum population as the denominator. Healthcare resource for primary care consultations and prescriptions, inpatient admissions and outpatient and emergency room contacts accrued during follow-up will be costed using standard algorithms. Appropriate age and gender matched controls will be selected and compared between cases and controls using Poisson regression models. All healthcare contacts will be costed, and costs compared using models based on the Gamma distribution. This study will provide valuable information on the healthcare burden associated with FXS and may inform healthcare decision-making and choices regarding newly developed therapeutics.
Prevalence; Patient characteristics; Healthcare resource use; GP visits; Inpatient admissions; Inpatient length of stay; Outpatient visits; Accident & Emergency visits; GP costs; Inpatient costs; Outpatient costs; Accident & Emergency costs.
Bethan Jones - Chief Investigator - Pharmatelligence Limited t/a Human Data Sciences
Bethan Jones - Corresponding Applicant - Pharmatelligence Limited t/a Human Data Sciences
Andrew Cooper - Collaborator - Shionogi BV
Christopher Morgan - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
Leah Fisher - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
peter conway - Collaborator - Shionogi BV
HES Accident and Emergency;HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data