NCT04098211|Active Not Recruiting
Loading search results
Sponsor study identifier
observational
5
1 country
1
Study Start
November 1, 2019
Actual (reported)Primary Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
The purpose of this study is to gather information on the possible symptoms that patients with atypical neuronal ceroid lipofuscinosis type 2 (also known as aTPP1 or atypical tripeptidyl peptidase deficiency) have and how they change over time.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
July 22, 2019
Actual (reported)September 23, 2019
Actual (reported)November 1, 2019
Actual (reported)December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
CLN2 Disease Severity Scoring
Modified Hamburg Rating Scale. The rating scale consists of two domains (motor function, language). Within each domain, a score from 0 to 3 is assigned and overall scores are calculated by summing the domain scores for final rating of 0 (severely impaired) to 6 (normal).
At baseline and every 3 months afterwards, up to 3 years
Electroretinogram (ERG)
Standard ERG will be performed to measure function of cones and rods of the inner and outer photoreceptor layers which amplitudes are typically decreased in classical TPP1 deficiency.
At baseline and every 6 months afterwards, up to 3 years
Optical Coherence Tomography (OCT)
OCT is non-invasive, quantitative measurement of inner and outer photoreceptor layer thicknesses.
Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants with onset of first symptom after 4 years of age
Children's Hospital of Orange County
Orange, California, 92868, United States
5 participants (actual enrollment reported by the registry).
First Submitted
July 22, 2019
First Posted
September 23, 2019
Study Start
November 1, 2019
Actual (reported)Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
At baseline and every 6 months afterwards, up to 3 years
Gait Assessment
Gait assessment is acquired utilizing infrared sensors applied to participant's clothing and will include collection of walking speed, cadence, swing phase, stride length and time, walking base width, stance phase, and double limb support phase.
At baseline and every 6 months afterwards, up to 3 years
Brain Magnetic Resonance Imaging (MRI)
Pre/post-contrast images will be acquired to perform volumetric studies and white matter assessment.
At baseline and every 12 months afterwards, up to 3 years
Electroencephalography (EEG)
EEG will be obtained and analyzed for changes that may be distinctive for TPP1 deficiency. Evaluation of background activity, mild/moderate/severe slowing for age.
At baseline and every 12 months afterwards, up to 3 years
Electroencephalography (EEG)
EEG will be obtained and analyzed for changes that may be distinctive for TPP1 deficiency. Interictal discharges: location, focal/generalized, discharge burden.
At baseline and every 12 months afterwards, up to 3 years
Electroencephalography (EEG)
Seizures.
At baseline and every 12 months afterwards, up to 3 years
Electroencephalography (EEG)
Photoparoxysmal response: present/absent
At baseline and every 12 months afterwards, up to 3 years
Cognitive Assessment, Wechsler Intelligence Scale for Children version 4 (WISC-IV)
WISC-IV will generate a full scale of intelligence quotient and five primary index scores: Verbal Comprehension, Visual Spatial, Fluid Reasoning, Working Memory, and Processing Speed. The WAIS-IV is scored by summing the raw scores for each subtest; each raw subtest score is then converted to a scaled scored. They are then combined to create a Full Scale IQ Index score. Test takers will also be given a score on the General Ability Index (GAI).
At baseline and every 12 months afterwards, up to 3 years
CSF Testing
Standard laboratory testing and biobanking / storage of remaining CSF (via Ommaya if on enzyme replacement; via lumbar puncture if not on enzyme replacement)
At baseline and every 3 months afterwards, up to 3 years
Contact the study team to confirm eligibility.
Primary Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
April 8, 2026
Record last verified: 2026-03
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.
Source retrieved: