Phase 1/2 CLN2 Disease Treatment Presented at NCL Boston 2016

Andrew Black and James Radke

At NCL Boston 2016, BioMarin presented promising data on their orphan drug BMN 190, currently undergoing clinical trials. BMN 190 is a potential treatment for individuals diagnosed with CLN2 disease.
The trial was a phase 1/2, multi-center, open-label, dose-escalation study that enrolled 24 patients diagnosed with CLN2 disease aged 3 - 16 years old.
The purpose of this study is to determine whether BMN 190 is safe and effective in the treatment of patients with Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) disease.
The study evaluated the safety, tolerability and efficacy of every other week intracerebroventricular (ICV) infusions of BMN 190 (cerliponase alfa) at 300 mg for a 48-week trial period.


The mean (SD)/median rate of decline in CLN2 score for subjects treated in 48- 91 weeks (n=23) was 0.48 (0.756)/0.00 units/48 weeks, in contrast to 2.09 (0.97)/1.87 units/48 weeks observed in natural history (n=41).
96% of the patients in the study had adverse events assessed as study drug-related, the majority of which were Grade 1-2 and included pyrexia (46%), hypersensitivity (38%), seizure (38%), and epilepsy (17%).
33% of the patients experienced serious adverse events during the study.

About CLN2 Disease

CLN2 disease an autosomal recessive disorder, which means that both parents are unaffected carriers.
CLN2 normally directs production of a lysosomal enzyme called tripeptidyl peptidase1 or TPP1. A deficiency of TPP1 results in abnormal storage of proteins and lipids in neurons and other cells and impaired cellular function.  The cells cannot function as they should and symptoms develop.


Schulz A, Specchio N, Gissen P, et al. Intracerebroventricular cerliponase alfa (BMN 190) in children with CLN2 disease: Results from a Phase 1/2, open-label, dose-escalation study. Presented at the 15th International Conference on Neuronal Ceroid Lipfuscinosis (Batten Disease); Boston, MA; October 5-8, 2016. Abstract O48.

This article was made possible by a sponsorship from BioMarin Pharmaceutical Inc. Rare Disease Report has sole control over the editorial content.
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