Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa. This study aims to validate standardized assessment measures to establish a standard of care. The secondary aim is to compare cognitive and developmental outcomes of patients with CLN2 that are receiving celiponase alfa to a natural history cohort. To accomplish specific aims of the study, the investigators will use a multi-method approach to collect retrospective data collected as standard of care and prospective developmental data in children with CLN2 disease. The investigators will use a combination of standardized measures that include direct assessment and parent report of child development. The investigators focus will also include multiple measures of development including language, motor, social-emotional, and adaptive functioning.
• Patients that have a TPP1 enzyme deficiency
• Patients have confirmed molecular diagnosis of pathogenic variants in the TPP1 gene
• Patients that are enrolled in post-marketing studies will be allowed to enroll into the current study