The following article features coverage from the 17th Annual WORLDSymposium meeting. Click here to read more of MPR’s conference coverage.
Treatment with cerliponase alfa may slow the rate of decline in developmental functioning in patients with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), according to research presented at the 17th Annual WORLDSymposium.
CLN2 is caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene, which results in TPP1 enzyme deficiency. Loss of motor, language and vision functioning are symptoms of this rare pediatric neurodegenerative lysosomal disease that often emerge by the age of 3. Cerliponase alfa is an enzyme replacement therapy that is approved by the Food and Drug Administration to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older with CLN2 disease.
To investigate the effect of cerliponase alfa on other developmental outcomes, researchers collected data from 16 patients with CLN2 disease who were categorized into 2 groups: treatment group receiving cerliponase alfa (n=14) and untreated group (n=2) from the natural history cohort. The Mullen Scales of Early Learning (MSEL) and Hamburg and Weill Cornell scales were used to measure developmental functioning. “Raw scores and age equivalencies were used as measures of developmental ability on the MSEL,” they explained.
According to developmental data at 6 and 9 years of age, patients treated with cerliponase alfa showed higher raw scores and age equivalencies across measures of visual reception, fine motor, and receptive language skills on the MSEL compared with the natural history cohort. Additionally, the treatment group demonstrated higher raw scores across measures of motor, language, visual functioning, and seizures on the Hamburg scale.
Based on these findings, the researchers concluded that “patients with CLN2 disease who are receiving treatment demonstrate a slower rate of decline of developmental skills than the untreated group.”
Disclosure: Some authors have declared affiliations with or received funding from the pharmaceutical industry. Please refer to the original study for a full list of disclosures.
Scherr J, Berry-Kravis E, Reyes E, et al. Comparing developmental outcomes of children with CLN2 disease receiving cerliponase alfa to a natural history cohort. Presented at: 17th Annual WORLDSymposium; February 8-12, 2021. Abstract 222.