Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Conclusion
Despite intraventricular ERT, retinal degeneration progressed in patients with CLN2 and was particularly pronounced between 56 and 80 months of age. Retina-directed therapies should therefore be initiated before or as early as possible during the phase of rapid retinal degeneration. PLT and WCBS were identified as valuable outcome measures to monitor disease progression.

Trial registration number
NCT04613089.

Source: British Journal of Ophthalmology - September 21, 2023 Category: Opthalmology Authors: Dulz, S., Schwering, C., Wildner, J., Spartalis, C., Schuettauf, F., Bartsch, U., Wibbeler, E., Nickel, M., Spitzer, M. S., Atiskova, Y., Schulz, A. Tags: Original articles - Clinical science Source Type: research