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Observational Study of Niemann-Pick Disease, Type C

This study is looking at clinical and lab tests that could help measure how Niemann-Pick Disease, Type C (NPC) progresses. NPC is a genetic disorder that causes a gradual loss of brain and nerve function. The study aims to find markers that show how well a treatment is working and to understand how quickly these markers change in people with NPC. This information will be used to plan future treatment trials. You may be able to join if you have been diagnosed with NPC, regardless of your age or gender. The study is currently unclear on its recruitment status.

Study design
This is an observational study with a planned enrollment of 900 participants. It is not testing a specific drug, but rather observing the disease.
What's involved
Participants will have procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.
Compensation
Not stated in the trial record.
Follow-up
The study measures plasma oxysterols, clinical, and biochemical markers at various times as needed (Ad Hoc) to define the rate of progression.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00344331

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

Recruiting
Not specifiedAges 1+Observational
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
~900 participants
Updated 2026-09-09 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Plasma Oxysterols
Measured over Ad Hoc
+2 more outcomes measured

Conditions

Niemann-Pick Disease, Type C

Explore related trials

Niemann-Pick Disease, Type C

NCT00344331

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandno site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Forbes D Porter, M.D. · PRINCIPAL_INVESTIGATOR · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who to contact

Derek M Alexander
[email protected]
(301) 827-0387
Email the study team

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Eligibility criteria

Inclusion

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

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).
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.
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.

What this trial measures

  • Plasma OxysterolsAd Hoc

    Oxysterols such as 24S-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol are derived from cholesterol and play a role in cholesterol homeostasis. No data is available on endogenous oxysterol levels in NPC patients. We plan to measure oxysterol levels in both serum and CSF and correlate these levels with disease status and progression.

  • Clinical & Biochemical MarkersAd Hoc

    Identify a clinical and/or biochemical marker that can be used as a therapeutic outcome measure for NPC.

  • Define Rate of ProgressionAd Hoc

    Define rate of progression of biochemical marker abnormalities in \<TAB\>NPC patients for future therapeutic indication.