Achondroplasia is a rare genetic condition which can have serious impact on people who have it. People with achondroplasia have bones that do not develop correctly, which causes many different problems, including being significantly shorter than average, breathing and heart problems, pain, deformities of the bones of the legs and spine, frequent surgical operations. This study will look at how patients in the UK who have achondroplasia grow and what height they achieve in the adult age, what other illnesses they develop as they grow from children to adults, how they use healthcare services, the number and type of hospital visits, tests, operations, and general practice visits that patients with achondroplasia make. This study also will look at the total cost of caring for patients with achondroplasia to the NHS. To do this, we will look at data from the CPRD and add up the number of times patients have visited hospital, GP surgeries, and/or had an operation or test. Each type of visit, operation or test can be assigned a cost, based on publicly available costs. These will be added up to provide an average cost of caring for a patient with achondroplasia. In addition, we will provide information on how the types of care and the cost changes as patients with achondroplasia gets older. To our knowledge, this information, for patients with achondroplasia in the UK, has not been published to date and will be an important source of data, potentially leading to changes in care of patients with achondroplasia, according to their needs.
The objectives of the study is:
- To describe the height-for-age growth in patients with achondroplasia
- To understand the burden of illness for patients with achondroplasia
To help achieve this overall objective, the CPRD data will be used:
- To understand the resource use for patients with achondroplasia over time
- To understand the cost of care for patients with achondroplasia over time
To accomplish these objectives, the investigators will utilise CPRD data to develop height-for-age growth curves by gender, to quantify the number and type of hospital visit (e.g. outpatient visits/inpatient stays), and general practice visits, as well as information on the type and frequency of operations and tests/diagnostics. Basic descriptive statistics will be run to determine the frequency of each outcome. This information will be run for the entire cohort as well as broken down by age, if feasible, to enable investigation into changing needs over time. Where possible, the information from the data sets will be linked to NHS costs using official tariffs/unit costs (e.g. NHS Reference costs or PSSRU unit costs for social care). This data will be aggregated to provide an average cost of care, as well as an investigation into changes in cost over time.
Primary:
- Standing height
- Sitting height
- Date of height measurement
- Age at the time of height measurement
- Gender of each subject
- HCP Referrals
- Health Care Resource use
- Co-morbidities
- Procedures and surgical interventions
Secondary:
- Complications of procedures and surgical interventions
- Pharmacological treatments received including investigational compounds
Sarah Landis - Chief Investigator - BioMarin Pharmaceutical Inc.
Sarah Landis - Corresponding Applicant - BioMarin Pharmaceutical Inc.
Alice Huntsman Labed - Collaborator - BioMarin Europe Ltd (closed)
James Jarrett - Collaborator - BioMarin Europe Ltd (closed)
Jeanne Pimenta - Collaborator - BioMarin Pharmaceutical Inc.
Louise Mazzeo - Collaborator - BioMarin Europe Ltd (closed)
Melita Irving - Collaborator - Guy's & St Thomas' NHS Foundation Trust
Richard Baxter - Collaborator - Whippletree Research
Karan Kanhai - Chief Investigator - BioMarin Europe Ltd (closed)
Karan Kanhai - Corresponding Applicant - BioMarin Europe Ltd (closed)
HES Accident and Emergency;HES Admitted Patient Care;HES Diagnostic Imaging Dataset;HES Outpatient;ONS Death Registration Data