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Search for NPC clues could speed future treatments

NCT ID NCT00344331

Knowledge-focused Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Sep 10, 2026 · Updated 19 times

Summary

This study aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. The goal is to identify reliable measures for use in future treatment trials.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could identify reliable ways to measure NPC progression, making future treatment trials faster and more accurate.
What could go wrong
This is an observational study, not a treatment trial. It may not find clear markers, and results may not apply to all patients.

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

About 900 people

The number the study aims to enrol. It can still change while the study runs.

Started

Aug 2006

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

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

Who is studied

Patients of any age with Niemann-Pick type C

Ages

1 day to 120 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: Affected Subjects The following individuals may be enrolled as in this study: * All patients with a diagnosis of NPC, based on clinical presentation, biochemical, or molecular. * Both NPC1 and NPC2 patients. * Patients of any age * Males or females * Any ethnic background EXCLUSION CRITERIA: Individuals will not be enrolled in this study if: * They cannot travel to the NIH because of their medical condition or are too ill to be cared for at home. * They have rapidly progressive neonatal cholestasis. * They are pregnant (a negative urine pregnancy test will be required for any menstruating female before participation in this study and at each NIH Clinical Center admission). Unaffected Subjects Individuals may be enrolled for data and biospecimen collection if: * They are a known NPC1 or NPC2 heterozygote and consent to specimen collection (as specified in the protocol) from the carrier population. * There is no diagnosis or suspicion of NPC disease, and consent is provided to be included in the control or caregiver population. Individuals will not be enrolled for biospecimen collection if: * Consent is not provided * They have a contraindication to the method of specimen collection * Patients will be excluded from the MRI section of the study if they have a contraindication to MRI or if they do not meet the safety criteria established by the NIH Clinical Center radiology department for MRI scanning.

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Conditions

The condition(s) this trial relates to.

lysosomal storage disease Niemann-Pick disease type C

As listed by the trial registrant

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

Niemann-Pick disease, type C

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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