ClinicalTrials.gov record NCT00344331
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This prospective observational study collects clinical and laboratory data from people with Niemann-Pick disease type C and from control or carrier volunteers. Participants attend repeated 4–5 day inpatient visits about every 6 months for exams, blood and urine tests, lumbar puncture (CSF), eye and hearing tests, MRI, psychometric testing, and photos. The study seeks clinical or biochemical markers and aims to define how those markers change over time.
What it is studying. The study is testing whether clinical assessments and biochemical measures (including blood and cerebrospinal fluid markers) can serve as reliable outcome measures for future NPC treatment trials, and it aims to measure how those markers progress over time in people with NPC.
What the researchers hope to learn. Measure plasma and CSF oxysterols and other biochemical markers; identify clinical or biochemical markers usable as outcome measures in future NPC trials; define the rate of progression of marker abnormalities in NPC.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial. Patients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.
- Medical evaluation, including medical history, physical exam, neurological exam, neuropsychometric evaluation, and blood and urine tests.
- Lumbar puncture (spinal tap): A sample of cerebrospinal fluid (CSF), the fluid that bathes the brain and spinal cord, is obtained for study. After administration of a local anesthetic, a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle.
- Eye exam and eye movement study: The pupils of the eye are dilated to examine the structures of the eyes. For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen.
- Hearing tests.
- Electroretinography (in patients who can cooperate with the test) to measure the function of the retina. Before the test, the patient's pupils are dilated and an electrode (small silver disk) is taped to the forehead. The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops. The contact lens senses small electrical signals generated by the retina when lights flash. During the ERG recording, the eye is stimulated with flashes of light projected inside a hollow sphere. After the test, a full eye exam is done and photographs of the retina are taken.
- Magnetic resonance imaging (MRI): This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals. The patient lies on a table that can slide in and out of the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. Patients who cannot remain still in the scanner may be sedated for the test.
- Psychometric testing: Patients complete questionnaires.
- Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications, with the patient's consent. Patients may be recognizable, but are not identified by name.
- Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-150,000) neurodegenerative disorder with a wide clinical spectrum and a variable age of onset. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia, dysarthria, seizures, vertical gaze palsy, motor impairment, dysphagia, psychotic episodes, and progressive dementia. In general, adolescent and adult onset forms have a more insidious onset and slower progression. There is no effective treatment for NPC and it is a lethal disorder. A major impediment to the testing of therapeutic interventions is the lack of well-defined outcome measures. The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
About every 6 months participants attend a 4– to 5‑day study visit and receive medical history, physical and neurological exams, neuropsychometric testing, and blood and urine sampling. Procedures can include a lumbar puncture (spinal tap), eye exam and eye‑movement testing using a contact lens, electroretinography (dark adaptation and an eye contact lens/electrode), hearing tests, and MRI of the brain (sedation may be used if needed). Participants complete questionnaires and may have photographs taken with consent. Females over 10 years of age will have a urine pregnancy test at the start of each visit.
How the study is structured. A prospective observational cohort (no study treatments). Participants return approximately every 6 months for 4–5 day inpatient evaluations that include medical and neurological exams, neuropsychological testing, blood and urine tests, lumbar puncture for CSF, eye movement and retinal testing, hearing tests, MRI scans, questionnaires, and photographs. Healthy volunteers and known carriers may provide control biospecimens.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Niemann-Pick disease type C
Important dates
- Study start
- Aug 14, 2006
- Target enrollment
- 900 participants (estimated)
- Last updated on registry
- Oct 2, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Derek M Alexander 📞 (301) 827-0387 ✉ derek.alexander@nih.gov
- Forbes D Porter, M.D. 📞 (301) 435-4432 ✉ fdporter@mail.nih.gov
Participating sites (1)
- National Institutes of Health Clinical CenterRecruiting
Bethesda, Maryland, 20892 · United States
Terms used on this page · explanations by MedicalUpdates.ai
- investigational drug
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- Lumbar puncture
- A procedure in which a needle is placed between the bones of the lower back to collect spinal fluid or to give a treatment.
- Magnetic resonance imaging
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- biospecimen
- A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.
- contraindication
- A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
- INCLUSION CRITERIA
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- EXCLUSION CRITERIA
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- outcome measures
- Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
- baseline
- Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
- clinical trial
- A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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