Achondroplasia is a rare genetic condition and the most common type of short limbed dwarfism. The aim of this study is to assess the feasibility (i.e. whether or not the data available is sufficient to carry out further, more detailed, research) of using the Clinical Practice Research Datalink (CPRD) CPRD Aurum database in a study of long-term safety of a new achondroplasia treatment.
It will provide detailed information about the occurrence of achondroplasia in general practice, from CPRD Aurum, and linked socioeconomic data from the Index of Multiple Deprivation (IMD), Office for National Statistics (ONS) Death Registration Data, Hospital Episode Statistics (HES) datasets, as well as associated health conditions and use of medications and treatments associated with the condition. It will also aim to describe the completeness of demographic data (such as, age, weight, height, and ethnicity) in patients with achondroplasia.
The results will include an evaluation of whether CPRD Aurum data would be an appropriate data source for the proposed future safety study, whether hospital data are needed in addition to GP data, and considerations for study design.
Achondroplasia is a rare genetic condition and the most common type of short limbed dwarfism. Recent feasibility counts revealed over 1,000 records for achondroplasia in the Clinical Practice Research Datalink (CPRD) Aurum database. However, more work is required to understand the completeness of these records in terms of secondary characteristics.
The aim of this study is to assess the feasibility of using CPRD Aurum data as an external control arm in a prospective study of long-term safety of a new achondroplasia treatment. This feasibility study aims to utilise CPRD Aurum, and linked secondary care databases, to understand what data is available for patients with achondroplasia.
The study aims to examine the completeness (counts, proportions, and rates) of records relating to demographic and anthropometric measures, mortality, comorbidities, medication use, and healthcare resource utilisation, including radiologic assessment, within patients with a diagnosis of achondroplasia by age. It will also look at the prevalence of achondroplasia and the distribution of achondroplasia diagnoses across the clinical codes that describe it. Additional data from secondary care will be obtained from the Office for National Statistics Death Registration Data and the Hospital Episode Statistic (HES) Admitted Patient Care (APC), Outpatient (OP), Accident and Emergency (A&E), and Diagnostic Imaging Dataset (DID) databases, in addition to practice and patient postcode-linked Index of Multiple Deprivation (IMD) data. These data will be used to further inform aspects of the demographic and anthropometric measures (e.g. ethnicity, deprivation), provide more detailed information about radiologic assessments, and to assess how secondary care healthcare resources are being accessed and used by people with achondroplasia.
The study report will include an interpretation of the findings in relation to how data could be used for an external control arm for the future prospective study. This will include an evaluation of whether CPRD primary care data would be an appropriate data source, whether and how linked data are required, and considerations for study design and matching.
Prevalence of achondroplasia; Length/height and weight over time by age; Incidence of bone-related events of interest (e.g. fractures, slipped capital femoral epiphysis, osteonecrosis or avascular necrosis, spinal cord and nerve root disorder, spine and neck deformities, joint disorder [e.g. joint contractures, join laxity/hypermobility, genu varum], clinically apparent cartilage disorder); Prescribing of medications after diagnosis of bone-related events of interest; Incidence of radiologic assessments and surgeries related to bone-related events of interest; Incidence of ACH-related complications and surgeries (e.g. ankle/knee pain, ear infection, sleep apnoea, leg numbness/weakness); Healthcare utilisation (e.g. GP visits, specialist referrals, inpatient stays, outpatient attendances, and A&E contacts); Mortality rate and causes of death.
Eleanor Axson - Chief Investigator - CPRD
Eleanor Axson - Corresponding Applicant - CPRD
Jeanne Pimenta - Collaborator - BioMarin Pharmaceutical Inc.
Martin Holding - Collaborator - CPRD
Rachael Williams - Collaborator - CPRD
Shelda Cohen - Collaborator - BioMarin Pharmaceutical Inc.
HES Accident and Emergency;HES Admitted Patient Care;HES Diagnostic Imaging Dataset;HES Outpatient;ONS Death Registration Data;Patient Level Index of Multiple Deprivation;Practice Level Index of Multiple Deprivation