Status:
COMPLETED
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborating Sponsors:
University of Oxford
Washington University School of Medicine
Conditions:
Niemann-Pick Disease, Type C
Eligibility:
All Genders
12+ years
Phase:
PHASE1
PHASE2
Brief Summary
Background: * Niemann-Pick disease type C (NPC) is a genetic disorder that results in progressive loss of nervous system function by affecting the membranes of nerve cells. There is no known cure for...
Detailed Description
Niemann-Pick Disease, type C (NPC) is an autosomal recessive lysosomal storage disease with progressive neurodegeneration. It is characterized by intracellular accumulation of cholesterol and glycosph...
Eligibility Criteria
Inclusion
- INCLUSION AND EXCLUSION CRITERIA:
- All patients with an established diagnosis of NPC will be considered for this study. The diagnosis may be based upon either molecular or biochemical testing.
- INCLUSION CRITERIA:
- Diagnosis of NPC by cellular assay or molecular testing.
- Twelve months of age or older and weight greater than 10 kg.
- Patient must be able to take the study medication orally or per gastrostomy tube.
- EXCLUSION CRITERIA:
- 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.
- Patients will be excluded if they are unable to tolerate the study procedures.
- 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). If sexually active, contraception must be used for the duration of the study.
- Patients will be excluded if they have had prior allergic or hypersensitivity symptoms associated with NAC use.
- Patients will be excluded from the study if they are unwilling to discontinue the following drugs and supplements for the duration of the study.
- a. All dietary supplements
- b. Any antioxidant supplement other than prescribed by the study. This will include dietary juices or drinks being marketed as a source of antioxidants
- c. CoQ10 supplements
- d. Any over-the-counter medication being used on a daily basis for which there is not a defined clinical reason
- e. NAC use
- Physician prescribed medications will be reviewed on a case-by-case basis. Patients may be excluded if medical therapies could interfere with the study endpoints. Except for carbamazepine, seizure control medications will be allowed. Patients will be excluded if taking carbamazepine or nitroglycerin.
- Over-the-counter medications use on a daily basis will be reviewed on a case-by-case basis. Patients may be excluded if medical therapies could interfere with the study endpoints.
- Patients will be excluded if they have an uncontrolled seizure disorder.
- Patients on miglustat at the start of the study will be excluded if the dose of miglustat cannot be held constant for the duration of the study. The miglustat dose must have been constant for two months prior to the baseline NIH evaluation. Patients will be withdrawn if they initiate miglustat use after entering the study.
- Patient who are at risk for gastric hemorrhage (preexisting esophageal varices or peptic ulcer disease).
- Patients on a sodium restricted diet for medical reasons.
- The following laboratory test abnormalities will exclude patients from the study:
- a. AST or ALT elevated greater than 4-fold upper limit of normal. Note: NPC patients frequently have transaminase levels 2-3 fold above normal.
- b. Anemia defined as two standard deviations below normal for age and gender.
- c. Platelet count less than 75,000.
- d. Elevated serum creatine level
- e. Hematuria or proteinuria
Exclusion
Key Trial Info
Start Date :
August 1 2009
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
November 1 2010
Estimated Enrollment :
35 Patients enrolled
Trial Details
Trial ID
NCT00975689
Start Date
August 1 2009
End Date
November 1 2010
Last Update
May 6 2013
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892