Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

N/AActive Not RecruitingNCT04098211

Children's Hospital of Orange County5 enrolled

Overview

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.

This study aims characterize the natural history of atypical TPP1 deficiency patients via longitudinal multidisciplinary assessments. Multifaceted clinical, laboratory, imaging, and diagnostic assessments will be performed at regular intervals upon enrolled aTPP1 deficiency patients, collated, and analyzed over a three-year longitudinal period.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Neuronal Ceroid-Lipofuscinoses Neuronal Ceroid Lipofuscinosis CLN2 Spinocerebellar Ataxia, Autosomal Recessive 7

Eligibility

Sex: ALLMin age: 4 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants * Onset of first symptom after 4 years of age * Parental provision of informed consent; child provision of assent (if necessary) Exclusion Criteria: * Any patient with "Classical" TPP1 deficiency (onset of first symptom prior to 4 years of age) * Investigator assessment that patient is not suitable candidate to participate in the study

Locations (1)

Children's Hospital of Orange County

Orange, California, United States

Outcomes

Primary Outcomes

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).

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: At baseline and every 12 months afterwards, up to 3 years

Data from ClinicalTrials.gov

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