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

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 4, 2017 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ) Identifier:
First received: June 23, 2006
Last updated: April 21, 2017
Last verified: April 4, 2017

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.

Neimann-Pick Disease, Type C

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Other
Official Title: Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Plasma Oxysterols [ Time Frame: Annual ]

Estimated Enrollment: 300
Study Start Date: June 16, 2006
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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

All patients with an established diagnosis of NPC (biochemical or molecular) will be considered for this study.

Both NPC1 and NPC2 patients are eligible.

Patients of any age, sex, or ethnic background will be eligible for this study.


Patients will be excluded if they cannot travel to the NIH because of their medical condition or are too ill to be cared for at home.

We will exclude NPC patients with rapidly progressive neonatal cholestasis.

Patients will be excluded if 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).

Patients will be excluded from the MRI section of the study if they have:

  1. Implanted cardiac pacemaker or autodefibrillators
  2. Implanted neural pacemakers
  3. Cochlear implants
  4. Metallic foreign bodies in the eye or CNS (such as a CNS aneurysmal clip)
  5. Any form of implanted wire or metal device that may concentrate radio frequency fields
  6. Pregnancy (A negative urine pregnancy test will be required for any menstruating female before participation in this study)
  7. History of an adverse reaction to sedation or anesthesia (if sedation is necessary).
  8. They do not meet the safety criteria established by the NIH Clinical Center radiology department for MRI scanning.

Although priority will be given to patients not on Zavesca, because of the potential limited number of patients, it will not be an exclusion criterion. Patients on Zavesca may be excluded from a future therapeutic trial.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00344331

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

United States, Maryland
Kennedy Krieger Institute Recruiting
Baltimore, Maryland, United States, 21205
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
United States, Missouri
Washington University, St. Louis Recruiting
Saint Louis, Missouri, United States, 63110
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Forbes D Porter, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

Additional Information:
Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Identifier: NCT00344331     History of Changes
Other Study ID Numbers: 060186
Study First Received: June 23, 2006
Last Updated: April 21, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Lysosomal Storage
Niemann Pick Type C
Lysosomal Storage Disorder

Additional relevant MeSH terms:
Pick Disease of the Brain
Frontotemporal Dementia
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Aphasia, Primary Progressive
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
Signs and Symptoms
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
Histiocytosis processed this record on May 22, 2017