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Rare brain disease study seeks to unlock mysteries of atypical TPP1 deficiency

NCT ID NCT04098211

Knowledge-focused Sponsor: Children's Hospital of Orange County Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather information, not to test a treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

5 people

The number who actually took part.

Started

Nov 2019

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants with onset of first symptom after 4 years of age

Ages

4 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

autosomal recessive spinocerebellar ataxia 7 neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 2 Neuronal Ceroid-Lipofuscinoses

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Neuronal ceroid lipofuscinosis CLN2 Neuronal ceroid-lipofuscinoses Spinocerebellar ataxia, autosomal recessive 7

Contacts and locations

Locations

  • Children's Hospital of Orange County

    Orange, California, 92868, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.