Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
|First Received Date ICMJE||June 23, 2006|
|Last Updated Date||September 17, 2014|
|Start Date ICMJE||June 2006|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||Plasma Oxysterols [ Designated as safety issue: Yes ]|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00344331 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C|
|Official Title ICMJE||Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C|
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.
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.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Neimann-Pick Disease, Type C|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||300|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
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:
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.
|Accepts Healthy Volunteers||No|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT00344331|
|Other Study ID Numbers ICMJE||060186, 06-CH-0186|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||September 2013|
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