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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.
Details
| Lead sponsor | Jessica Scherr |
|---|---|
| Status | ENROLLING_BY_INVITATION |
| Enrolment | 30 |
| Start date | 2018-12-01 |
| Completion | 2025-12 |
Conditions
- Batten Disease
- CLN2
- Neuronal Ceroid-Lipofuscinoses
Interventions
- CLN2 Treatment
Primary outcomes
- Changes in Visual Reception Skills on the Mullen Scales of Early Learning — up to 4 years
Changes in the Visual Reception subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Visual reception skills are a measure of visual processing and problem solving. Raw scores will be used as a measure of visual receptions skills with scores ranging from 0 to 50. Higher scores indicate more visual reception skills. - Changes in Fine Motor Skills on the Mullen Scales of Early Learning — up to 4 years
Changes in the Fine Motor subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Fine motor skills are a measure of fine motor coordination. Raw scores will be used as a measure of fine motor skills with scores ranging from 0 to 49. Higher scores indicate more fine motor skills. - Changes in Receptive Language Skills on the Mullen Scales of Early Learning — up to 4 years
Changes in the Receptive Language subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Receptive language skills are a measure of the understanding of language. Raw scores will be used as a measure of receptive language skills with scores ranging from 0 to 48. Higher scores indicate more receptive language skills. - Changes in Expressive Language Skills on the Mullen Scales of Early Learning — up to 4 years
Changes in the Expressive Language subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Expressive language skills are a measure of how an individual communicates. Raw scores will be used as a measure of expressive language skills with scores ranging from 0 to 50. Higher scores indicate more expressive language skills. - Motor and Language Changes on the CLN2 disease rating scale — up to 4 years
Change in motor and language subscales of the CLN2 disease rating scale. Ranges for scores are 0 to 6 with higher scores indicating more abilities in motor and language skill development.
Countries
United States