Active — Not RecruitingNot Applicable

Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

United States5 participantsStarted 2019-11-01

Plain-language 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.

Who can participate

Age range

4 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

CLN2 Disease Severity Scoring

Timeframe: At baseline and every 3 months afterwards, up to 3 years

Electroretinogram (ERG)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Optical Coherence Tomography (OCT)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Gait Assessment

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Brain Magnetic Resonance Imaging (MRI)

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

Electroencephalography (EEG)

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

Electroencephalography (EEG)

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

Trial details

NCT IDNCT04098211

SponsorChildren's Hospital of Orange County

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-12

View on ClinicalTrials.gov More Neuronal Ceroid-Lipofuscinoses trials

Who can participate

Age range

4 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

CLN2 Disease Severity Scoring

Timeframe: At baseline and every 3 months afterwards, up to 3 years

Electroretinogram (ERG)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Optical Coherence Tomography (OCT)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Gait Assessment

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Brain Magnetic Resonance Imaging (MRI)

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

Electroencephalography (EEG)

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

Electroencephalography (EEG)

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