Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

NCT03862274 | Enrolling By Invitation

• 1 other identifier: IRB18-00464
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Batten Disease; CLN2; Neuronal Ceroid-Lipofuscinoses

Outcome Measures

Primary Outcomes (5)

• Changes in Visual Reception Skills on the Mullen Scales of Early Learning

  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.

  up to 4 years

• Changes in Fine Motor Skills on the Mullen Scales of Early Learning

  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.

  up to 4 years

• Changes in Receptive Language Skills on the Mullen Scales of Early Learning

  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.

  up to 4 years

• Changes in Expressive Language Skills on the Mullen Scales of Early Learning

  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.

  up to 4 years

• Motor and Language Changes on the CLN2 disease rating scale

  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.

  up to 4 years

Secondary Outcomes (2)

• Changes in Receptive Language Skills on the Preschool Language Scales

  up to 4 years

• Changes in Expressive Language Skills on the Preschool Language Scales

  up to 4 years

Study Arms (2)

CLN2 Natural History Control Group

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.

CLN2 Treatment Group

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.

Other: CLN2 Treatment

Interventions

CLN2 Treatment OTHER

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.

CLN2 Treatment Group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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 are receiving cerliponase alfa.

You may qualify if:

• 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

You may not qualify if:

• Patients without a diagnosis of CLN2 and deficiency of TPP1
• Patients that are currently enrolled as part of a larger multi-center clinical trial

Sponsors & Collaborators

• Jessica Scherr: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Related Publications (5)

• Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.

  PMID: 23602993 BACKGROUND

• Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.

  PMID: 29688815 BACKGROUND

• Wisniewski KE, Zhong N, Philippart M. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology. 2001 Aug 28;57(4):576-81. doi: 10.1212/wnl.57.4.576.

  PMID: 11548735 BACKGROUND

• Worgall S, Kekatpure MV, Heier L, Ballon D, Dyke JP, Shungu D, Mao X, Kosofsky B, Kaplitt MG, Souweidane MM, Sondhi D, Hackett NR, Hollmann C, Crystal RG. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology. 2007 Aug 7;69(6):521-35. doi: 10.1212/01.wnl.0000267885.47092.40.

  PMID: 17679671 BACKGROUND

• Williams RE, Aberg L, Autti T, Goebel HH, Kohlschutter A, Lonnqvist T. Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta. 2006 Oct;1762(10):865-72. doi: 10.1016/j.bbadis.2006.07.001. Epub 2006 Jul 12.

  PMID: 16930952 BACKGROUND

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jessica Scherr, PhD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

• Emily de los Reyes, MD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 4, 2019
• First Posted: March 5, 2019
• Study Start: December 1, 2018
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: October 24, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)