Patients that have a TPP1 enzyme deficiency and/or confirmed molecular diagnosis of pathogenic variants in the TPP1 gene are eligible to participate if they are untreated or not receiving cerliponase alfa.

Patients that have a TPP1 enzyme deficiency and/or confirmed molecular diagnosis of pathogenic variants in the TPP1 gene are eligible to participate if they are receiving cerliponase alfa.

Batten Disease

CLN2

Neuronal Ceroid-Lipofuscinoses

CLN2 Treatment

Nationwide Children's Hospital

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

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 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 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 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.

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.

Changes in the Receptive Language subscale on the Preschool Language Scales 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 65. Higher scores indicate more receptive language skills.

Changes in the Expressive Language subscale on the Preschool Language Scales 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 67. Higher scores indicate more expressive language skills.

Jessica Scherr

Principal Investigator

BioMarin Pharmaceutical

Term Hypoxic Ischaemic Encephalopathy (HIE)

Hypoxic Ischaemic Encephalopathy (HIE)

Asphyxia

Click here for more information on the BiHIVE Study

Cork University Maternity Hospital

Karolinska University Hospital

BiHiVE2 Study. The Investigation and Validation of Predictive Biomarkers in Hypoxic-ischaemic Encephalopathy.

BiHiVE 2 Study. The Investigation and Validation of Predictive Biomarkers in Hypoxic-ischaemic Encephalopathy.

Clinical examination using the Thompson Encephalopathy score and visual interpretation of multichannel EEG

Bayley's Scales of infant Development Version III

protease/seizures

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

BiHiVE2 Study. The Investigation and Validation of Predictive Biomarkers in Hypoxic-ischaemic Encephalopathy.

Effect of Intraoperative Aprotinin Administration on Post Cardiac Surgery Optic Nerve and Retinal Thickness.

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