A Case Study of Real-World Health Resource Utilization and Costs in a Patient With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2), an Ultra-Rare Pediatric Disease

OBJECTIVES: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an ultra-rare, neurodegenerative lysosomal disease with typically late-infantile onset. It follows a predictable clinical course characterized by frequent seizures, vision loss, and rapidly declining psychomotor function. This case study aimed to better understand the healthcare resource use (HRU) associated with CLN2 disease under standard care, prior to the availability of enzyme replacement therapy (ERT).

METHODS: HRU data (appointments, referrals, procedures/tests, and medications) for patients with a confirmed CLN2 disease diagnosis were collected retrospectively from medical records at Great Ormond Street Hospital (GOSH), UK. Reference costs were mapped on to each identified resource item and yearly costs calculated. A broad perspective was taken to include any costs as documented in National Health Service (NHS) medical records.

RESULTS: Due to the ultra-rare prevalence of CLN2 disease and availability of ERT in the UK, just one eligible patient was identified and enrolled. Data from hospital visits were collected over 9.92 years of follow-up time. On average, the patient had over 100 counts of resource use per year, of which 65 counts were medication related. Costs varied considerably per year, with no clear trend identified between costs and disease progression.

CONCLUSIONS: This study is the first of its kind in CLN2 disease, providing quantitative data on the estimated yearly costs associated with the management of a patient on standard care over long-term follow-up. While data was only available for one patient, the patient was tracked across almost 10 years of hospital visits as their disease progressed.