Inherited retinal dystrophy (IRD) are a group of conditions that are a major cause of early onset-blindness. Amongst these conditions are Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) which affect the cells in the retina (the light sensitive tissue at the back of the eye). Initial symptoms of IRDs include decreased peripheral vision and problems seeing at night, but many patients will progress to near-total blindness as early as the pre-school years. Treatment for these conditions has been limited to sunglasses to slow down the damage to the retina, genetic counselling and support for vision loss.
Novartis Pharmaceuticals, have manufactured a therapy called voretigene neparvovec (Luxturna) for genetic eye disorders and need to measure the costs associated with the management RP and LCA in order to understand the financial impact that an effective treatment for these conditions may have in the UK. This includes costs associated with management of the eye disorder and other health areas such as fractures and depression. In addition, data around patient demographics and age of diagnosis will also be collected. All data will be obtained through the Clinical Practice Research Datalink (CPRD) and Health Episode Statistics (HES) databases.
The data from the project will be analysed to examine the number and annual cost per patient of eye surgery and activities taking place within the hospital, the number and cost for each patient attending their GP due to these disorders and the number of times and costs associated with the patient visiting hospital or their GP for depression related events and fractures.
A major cause of early-onset blindness, inherited retinal dystrophies (IRDs) include conditions such as retinitis pigmentosa (RP) which represents the largest patient group and Leber Congenital Amaurosis (LCA) which is often described as the most severe form of IRD.
Novartis is the manufacturer of voretigene neparvovec, (Luxturna) an adeno-associated virus (AAV) vector-based gene therapy for the treatment of biallelic RPE65 mutation-associated inherited retinal dystrophies (IRD). Biallelic RPE65-mediated IRDs are a group of rare eye disorders which occur when there are mutations in both alleles of the RPE65 gene which is linked to retinal pigment epithelium (RPE) cells.
This study aims to assess resource use and associated costs for patients with IRD to support the cost effectiveness analysis required for health technology assessment by the National Institute for Health and Care Excellence (NICE). The study will be descriptive. Patients with RP or LCA (2008-2018) will be identified by Read code in the CPRD primary care dataset and date of first onset will be identified as the index date. The number of primary and secondary care contacts post-index date will be aggregated. Primary care contacts will be costed with costs derived from the Units Costs of Health and Social Care. Secondary care activity will be processed using HRG groupers, and mapped to the relevant National Tariff. Length of inpatient stay will also be presented. In addition, activity relating specifically to ophthalmology will be flagged by relevant codes and aggregated. Prescriptions emanating from primary care will be aggregated from the therapy table and costed based on the net ingredient cost derived from Prescribing analysis and cost tabulation (PACT) data. Those indicated for ophthalmological complications and depression will be flagged. The incidence of RP and LCA will be presented by year and age of onset.
Primary endpoints:
Total number of hospital spells with a diagnosis of ICD-10 H355, outpatient appointments, A&E attendances by type; Spells and outpatient appointments where the treating specialty is ophthalmology; Spells where depression is a comorbidity; Spells where an ophthalmology procedure is performed; A&E attendances related to ophthalmology; A&E attendance for fracture, Length of hospital spells and total bed days (including excess bed days; Total and average cost; Cost of spells with ophthalmology procedures; Number of GP ophthalmology interactions with RP and LCA patients
Secondary endpoints:
Total number of patients diagnosed with RP and LCA by year of diagnosis and age at diagnosis; Incidence of newly diagnosed patients diagnosed with RP and LCA by year of diagnosis and age at diagnosis; Patient baseline demographics (age at diagnosis, gender); Total number of hospital spells by type and department of admission by age at diagnosis; Length of hospital stays and total bed days; Total and mean; Complications and readmissions; Number of GP contacts for ophthalmology; Prescribing review for ophthalmology; Prescribing review for depression
Carly Rich - Chief Investigator - Harvey Walsh Ltd
Mark Evans - Corresponding Applicant - OPEN Health Group
Bethan Jones - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
Christopher Morgan - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
David Heaton - Collaborator - Harvey Walsh Ltd
Bethan Jones - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
Christopher Morgan - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
HES Accident and Emergency;HES Admitted Patient Care;HES Outpatient