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Observational Study of Developmental Outcomes in Children with CLN2 Disease

This observational study is looking at how children with CLN2 disease (a type of Batten disease) develop over time. It's for children who have a TPP1 enzyme deficiency or a confirmed genetic diagnosis of CLN2, and who are currently receiving cerliponase alfa treatment. Researchers will track changes in visual reception, fine motor skills, and receptive language skills using the Mullen Scales of Early Learning for up to four years. The goal is to better understand the cognitive and developmental outcomes for these children, especially those treated with cerliponase alfa, and to help establish standard care practices. The study aims to enroll 30 participants, but its current recruitment status is unclear.

Study design
This is an observational study with no specified phase, planning to enroll 30 participants. It will collect both past and future developmental data.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants' visual reception, fine motor, and receptive language skills will be measured for up to 4 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03862274

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

Enrolling by Invitation
Not specifiedAll AgesObservational
Jessica Scherr
~30 participants
Updated 2025-10-24 on ClinicalTrials.gov
What's tested:CLN2 Treatment

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Changes in Visual Reception Skills on the Mullen Scales of Early Learning
Measured over up to 4 years
+4 more outcomes measured

Conditions

Batten Disease
CLN2
Neuronal Ceroid-Lipofuscinoses

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Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Nationwide Children's Hospital

    Columbus, Ohiono site contact published

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Jessica Scherr, PhD · PRINCIPAL_INVESTIGATOR · Nationwide Children's Hospital
  • Emily de los Reyes, MD · PRINCIPAL_INVESTIGATOR · Nationwide Children's Hospital

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

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Eligibility criteria

Inclusion

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

Exclusion

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

What this trial measures

  • Changes in Visual Reception Skills on the Mullen Scales of Early Learningup 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 Learningup 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 Learningup 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 Learningup 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 scaleup 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.