Clinical trial NCT04098211: Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Official title: Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid Lipofuscinosis CLN2
Spinocerebellar Ataxia, Autosomal Recessive 7
Keywords: Neuronal Ceroid Lipofuscinosis
Atypical CLN2 Disease
Natural History
Lead sponsor: Children's Hospital of Orange County
Sponsor class: OTHER
First posted: 2019-09-23
Enrollment: 5
Sex: ALL
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants with onset of first symptom after 4 years of age

Brief 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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: CLN2 Disease Severity Scoring
timeFrame: At baseline and every 3 months afterwards, up to 3 years
measure: Electroretinogram (ERG)
timeFrame: At baseline and every 6 months afterwards, up to 3 years
measure: Optical Coherence Tomography (OCT)
timeFrame: At baseline and every 6 months afterwards, up to 3 years
measure: Gait Assessment
timeFrame: At baseline and every 6 months afterwards, up to 3 years
measure: Brain Magnetic Resonance Imaging (MRI)
timeFrame: At baseline and every 12 months afterwards, up to 3 years
measure: Electroencephalography (EEG)
timeFrame: At baseline and every 12 months afterwards, up to 3 years
measure: Electroencephalography (EEG)
timeFrame: At baseline and every 12 months afterwards, up to 3 years
measure: Electroencephalography (EEG)
timeFrame: At baseline and every 12 months afterwards, up to 3 years
measure: Electroencephalography (EEG)
timeFrame: At baseline and every 12 months afterwards, up to 3 years
measure: Cognitive Assessment, Wechsler Intelligence Scale for Children version 4 (WISC-IV)
timeFrame: At baseline and every 12 months afterwards, up to 3 years
measure: CSF Testing
timeFrame: At baseline and every 3 months afterwards, up to 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Orange
country: United States
facility: Children's Hospital of Orange County
state: California
Study officials:
References: