Cerliponase alfa for CLN2 disease, a promising therapy

ABSTRACT Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare, lysosomal storage disease that causes progressive neurodegeneration in children. Cerliponase alfa enzyme replacement therapy is the first approved treatment for CLN2. Areas covered: This article reviews the clinical presentation of CLN2, significant preclinical and clinical studies related to the approvals of cerliponase alfa enzyme replacement therapy (ERT) and other future disease modifying therapies like gene transfer. Authors also describe standard and novel surgical approaches and practical infusion considerations. Authors performed a comprehensive literature review using PubMed and ISI web of science. Inclusive dates of search were from September to October 2020. Expert opinion: Prior to the approval of cerliponase alfa ERT, treatment was limited to symptomatic and palliative approaches. Cerliponase alfa intracerebroventricular therapy offers a safe and effective treatment option with long-term delay of disease progression. Current research indicates treated children have better outcomes in comparison to their natural history counterparts allowing preserved ambulation and language. Future research should be directed toward the discovery of therapies that may allow the delivery or promote production of functional CLN2 protein such as gene therapy.