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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00344331
Recruitment Status : Recruiting
First Posted : June 26, 2006
Last Update Posted : May 12, 2023
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Brief Summary:

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.

Condition or disease
Niemann-Pick Disease, Type C

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 900 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Actual Study Start Date : August 14, 2006

Patients with a diagnosis of Niemann-Pick type C (NPC) of either sex and any age
Participants may range from neurologically asymptomatic to severe and may have liver disease or unrelated comorbidities, but must be stable enough to safely travel and tolerate medical evaluations.

Primary Outcome Measures :
  1. Plasma Oxysterols [ Time Frame: ad 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients of any age with Niemann-Pick type C

Affected Subjects

The following individuals may be enrolled as in this study:

  • All patients with an established diagnosis of NPC (biochemical or molecular).
  • Both NPC1 and NPC2 patients.
  • Patients of any age
  • Males or females
  • Any ethnic background


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 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 they consent to specimen collection (as specified in the protocol) from a control 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00344331

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Contact: Nicole M Farhat, C.R.N.P. (301) 594-1765
Contact: Forbes D Porter, M.D. (301) 435-4432

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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Principal Investigator: Forbes D Porter, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Identifier: NCT00344331    
Other Study ID Numbers: 060186
First Posted: June 26, 2006    Key Record Dates
Last Update Posted: May 12, 2023
Last Verified: January 24, 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: .Data from this study will be coded and shared in aggregate.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Lysosomal Storage
Natural History
Niemann Pick Type C
Lysosomal Storage Disorder
Additional relevant MeSH terms:
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Pick Disease of the Brain
Aphasia, Primary Progressive
Frontotemporal Dementia
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Frontotemporal Lobar Degeneration
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
TDP-43 Proteinopathies
Neurodegenerative Diseases
Proteostasis Deficiencies
Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Histiocytosis, Non-Langerhans-Cell
Lymphatic Diseases