Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

Neuronal Ceroid-Lipofuscinoses Clinical Trial

Official title:

Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04098211
• Other study ID #: 190219
• Status: Active, not recruiting
• Start date: November 1, 2019
• Est. completion date: December 2024

Study information

• Verified date: February 2024
• Source: Children's Hospital of Orange County
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 5
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Years and older

Eligibility

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

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
United States	Children's Hospital of Orange County	Orange	California

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital of Orange County

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	Optical Coherence Tomography (OCT)	OCT is non-invasive, quantitative measurement of inner and outer photoreceptor layer thicknesses.	At baseline and every 6 months afterwards, up to 3 years
Primary	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
Primary	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
Primary	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
Primary	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
Primary	Electroencephalography (EEG)	Seizures.	At baseline and every 12 months afterwards, up to 3 years
Primary	Electroencephalography (EEG)	Photoparoxysmal response: present/absent	At baseline and every 12 months afterwards, up to 3 years
Primary	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
Primary	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