Schulz A, et al. - Researchers undertook a multicenter, open-label study, to evaluate the effect of intraventricular infusion of cerliponase alfa in children with ceroid lipofuscinosis type 2 (CLN2) disease who were between the ages of 3 and 16 years. Intraventricular infusion of cerliponase alfa resulted in less decline in motor and language function in patients with CLN2 disease compared to that in historical controls. Failure of the intraventricular device and device-related infections were noted to be serious adverse events.

Methods

• The effect of intraventricular infusion of cerliponase alfa every 2 weeks was evaluated in children with CLN2 disease who were between the ages of 3 and 16 years.
• Initiation of treatment was undertaken at a dose of 30 mg, 100 mg, or 300 mg; then the 300-mg dose was administered to all the patients for at least 96 weeks.
• The time until a 2-point decline in the score on the motor and language domains of the CLN2 Clinical Rating Scale (which ranges from 0 to 6, with 0 representing no function and 3 representing normal function in each of the two domains) was assessed as the primary outcome, this was compared with the rate of decline in 42 historical controls.
• Comparison of the rate of decline in the motor–language score between the two groups was also performed, using data from baseline to the last assessment with a score of more than 0, divided by the length of follow-up (in units of 48 weeks).

Results

• Researchers enrolled 24 patients, 23 of whom constituted the efficacy population.
• For treated patients, the median time until a 2-point decline in the motor–language score was not reached and for historical controls, was 345 days.
• In treated patients, the mean (±SD) unadjusted rate of decline in the motor–language score per 48-week period was 0.27±0.35 points and in 42 historical controls, was 2.12±0.98 points (mean difference, 1.85; P<0.001).
• Convulsions, pyrexia, vomiting, hypersensitivity reactions, and failure of the intraventricular device were recognized as the common adverse events.
• Infections developed in the intraventricular device that was used to administer the infusion in 2 patients, which required antibiotic treatment and device replacement.