Profiling the natural history of Crigler-Najjar syndrome using the Clinical Practice Research Datalink

Date of Approval
Application Number
Technical Summary

We aim to define a cohort of patients with Crigler-Najjar syndrome (CNS) and create patient profiles of relevant characteristics to determine, firstly, CNS type (CNS1 or CNS2) and, secondly, to follow the natural history of the condition. Data will be selected from CPRD, including linked HES inpatient and outpatient data and ONS mortality data. Patient profiles will be constructed for patients with relevant Read or ICD-10 codes including demographics, age at diagnosis, treatment pathways, longitudinal change in bilirubin values, rates of inpatient, outpatient and primary care contacts, and mortality and liver transplant rates.

Health Outcomes to be Measured

a) Gender, age, location (based on the UK nation or English strategic health authority region in which the patient's primary care practice is located) b) CNS type. There are no classification codes to distinguish between CNS1 and CNS2, therefore we will use the decision rules outlined in Table 1. c) Age at first presentation d) Changes in diagnosis, that is the recording of other similar conditions such as Gilbert's disease e) Investigative procedures (liver biopsy, genotyping) f) Biochemistry - Serum bilirubin g) Family history based on siblings/parents with CNS sharing CPRD family number (patient histories will be compared to reduce the risk that patients are linked by shared accommodation only) h) Age when CNS treatment initiated by transfusion, phototherapy, phenobarbital i) Frequency of inpatient, outpatient and primary care contacts j) All therapeutics used for treatment or management purposes, and reasons for the therapies (based on ICD-10 or Read code) (from CPRD database only) k) Age at liver transplant l) Age at death; cause of death.


Christopher Morgan - Chief Investigator - Pharmatelligence Limited t/a Human Data Sciences
Christopher Morgan - Corresponding Applicant - Pharmatelligence Limited t/a Human Data Sciences
Adam Hamm - Collaborator - American Statistical Association
Alexander Cole - Collaborator - Alexion Pharmaceuticals
Derek Dunn - Collaborator - Alexion Pharmaceuticals
Judith Campagnari - Collaborator - Alexion Pharmaceuticals
Leonardo Sahelijo - Collaborator - Alexion Pharmaceuticals
Sara Jenkins-Jones - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
Susana (Susan) Sobolov - Collaborator - Alexion Pharmaceuticals


HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data;Patient Level Index of Multiple Deprivation;Practice Level Index of Multiple Deprivation