Neuronal Ceroid-LipofuscinosesNCT04098211
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
An observational study of Neuronal Ceroid-Lipofuscinoses and Neuronal Ceroid Lipofuscinosis CLN2, run by Children's Hospital of Orange County at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
- How many people
- 5 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Nov 2019to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants with onset of first symptom after 4 years of age
Who may be able to join
- 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)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Orange County
Orange, California, 92868
About this study
Official title: Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients
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.
Read the 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.
- Conditions
- Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
- Keywords
- Neuronal Ceroid Lipofuscinosis, Atypical CLN2 Disease, Natural History
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses, Spinocerebellar Ataxia, Autosomal Recessive 7
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: At baseline and every 12 months afterwards, up to 3 years
Electroencephalography (EEG)
Seizures.
Measured: At baseline and every 12 months afterwards, up to 3 years
Electroencephalography (EEG)
Photoparoxysmal response: present/absent
Measured: 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).
Measured: 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)
Measured: At baseline and every 3 months afterwards, up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Sep 2019
- Study start1 Nov 2019
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuronal Ceroid-LipofuscinosesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Orange County
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04098211
- Sponsor's protocol ID
- 190219
- Status last verified
- Mar 2026
- First submitted
- 22 Jul 2019
- Last updated
- 8 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients
- ClinicalTrials.gov ID
- NCT04098211
- Acronym / sponsor ID
- 190219
- Conditions
- Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
- Keywords
- Neuronal Ceroid Lipofuscinosis, Atypical CLN2 Disease, Natural History
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 5 participants (actual)
- Lead sponsor
- Children's Hospital of Orange CountyUniversity, hospital or other
- Study start
- 1 Nov 2019 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 23 Sep 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants with onset of first symptom after 4 years of age
Key inclusion criteria (3 listed)
- 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)
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
CLN2 Disease Severity Scoring
Time frame: At baseline and every 3 months afterwards, up to 3 years
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).
Electroretinogram (ERG)
Time frame: At baseline and every 6 months afterwards, up to 3 years
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.
Optical Coherence Tomography (OCT)
Time frame: At baseline and every 6 months afterwards, up to 3 years
OCT is non-invasive, quantitative measurement of inner and outer photoreceptor layer thicknesses.
Gait Assessment
Time frame: At baseline and every 6 months afterwards, up to 3 years
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.
Brain Magnetic Resonance Imaging (MRI)
Time frame: At baseline and every 12 months afterwards, up to 3 years
Pre/post-contrast images will be acquired to perform volumetric studies and white matter assessment.
Electroencephalography (EEG)
Time frame: At baseline and every 12 months afterwards, up to 3 years
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.
Electroencephalography (EEG)
Time frame: At baseline and every 12 months afterwards, up to 3 years
EEG will be obtained and analyzed for changes that may be distinctive for TPP1 deficiency. Interictal discharges: location, focal/generalized, discharge burden.
Electroencephalography (EEG)
Time frame: At baseline and every 12 months afterwards, up to 3 years
Seizures.
Electroencephalography (EEG)
Time frame: At baseline and every 12 months afterwards, up to 3 years
Photoparoxysmal response: present/absent
Cognitive Assessment, Wechsler Intelligence Scale for Children version 4 (WISC-IV)
Time frame: At baseline and every 12 months afterwards, up to 3 years
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).
CSF Testing
Time frame: At baseline and every 3 months afterwards, up to 3 years
Standard laboratory testing and biobanking / storage of remaining CSF (via Ommaya if on enzyme replacement; via lumbar puncture if not on enzyme replacement)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuronal Ceroid-Lipofuscinoses and Neuronal Ceroid Lipofuscinosis CLN2, run by Children's Hospital of Orange County at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CLN2 Disease Severity Scoring (time frame: At baseline and every 3 months afterwards, up to 3 years). The study lists 11 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Apr 2026; AzTrials last refreshed its copy on 8 Nov 2026.