Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

Part of paid clinical trials in Columbus, Ohio.

Sponsor
Jessica Scherr
Study ID
NCT03862274
Status
Enrolling By Invitation

Conditions

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

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.

Study Details

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.

Key Dates

Start date
Dec 1, 2018
Status verified
Oct 2025
Primary completion
Dec 31, 2025
Completion
Dec 31, 2025

Study Design

Enrollment
30 participants (estimated)

Arms

  • Arm: 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.
  • Arm: 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.

Primary Outcome Measure

Changes in Visual Reception Skills on the Mullen Scales of Early Learning [ Time Frame: up to 4 years ]

Locations (1)

FacilityCityStateZIPSite coordinators
Nationwide Children's HospitalColumbusOhio43205-

Find similar trials in Columbus, OH

By research site
Nationwide Children's Hospital· Columbus, OH

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