New Insights into Batten Disease CLN1 from a Patient Facing Registry

There is currently no FDA approved treatment for Batten disease CLN1, a rapidly progressive, fatal, and rare pediatric neurodegenerative disease. In this article, we aimed to collect retrospective clinical data from the families to identify CLN1 patients for a future patient facing natural history study and clinical trial. We have therefore developed and launched an institutional review board approved Batten disease CLN1 registry (https://cln1registry.collaborationspharma.com). We implemented a range of clinically relevant questions for the caregiver to answer in the registry created using the Django 5.0 web framework. Authenticated users provide profile data as well as patient and caregiver information, which is collected, stored in an encrypted SQLite database and deidentified before export and analysis. The registry application is deployed on an in-house private server using Docker with the database file and decryption key stored outside of the docker image and managed independently. We analyzed the collected data from 23 individuals with CLN1 Batten disease, including geographic distribution, age of diagnosis, onset of disease including motor and language declines. Although CLN1 is well known as infantile onset (<18 months), on average the diagnosis was not identified until 25 months which indicates a delay in diagnosis. We identified how the onset of disease is similar with most occurring before 25 months while infantile and late infantile patients had earlier onset and more frequent seizures in comparison to juvenile onset patients. Antiepileptic medications were the most heavily represented. Our findings provide new insights for CLN1 clinical care, enabling readiness for future natural history and clinical trials.