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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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)
  

  Detailed Summary:

  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.

  
  Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  

  Current Primary Outcome: Plasma Oxysterols [ Time Frame: Annual ]
  
  

  Original Primary Outcome:
  
  

  Current Secondary Outcome:
  
  

  Original Secondary Outcome:
  
  Information By: National Institutes of Health Clinical Center (CC)
  

  Dates:
  Date Received: June 23, 2006
  Date Started: June 16, 2006
  Date Completion:
  Last Updated: April 21, 2017
  Last Verified: April 4, 2017