Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Status:
Completed
Trial end date:
2010-11-01
Target enrollment:
Participant gender:
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 NPC.
- N-acetyl cysteine (NAC) is a drug that has been approved by the Food and Drug
Administration to use either orally or IV for the treatment of acetaminophen (Tylenol)
poisoning or as an aerosol to reduce the stickiness of mucous in patients with cystic
fibrosis. In the body, NAC is converted to an amino acid called cysteine, which cells
can convert to a chemical called glutathione. Glutathione is important in helping cells
deal with oxidative stress. Based on a number of experiments in cells, mice and patients
with NPC, we believe that oxidative stress is increased in NPC. If we can increase
glutathione levels, we may be able to decrease the oxidative stress.
Objectives:
- To test the safety and effectiveness of N-acetyl cysteine to treat Niemann-Pick disease
(type C).
Eligibility:
- Individuals at least 1 year of age who have been diagnosed with NPC.
Design:
- Patients entering this study will be seen at the National Institutes of Health Clinical
Center four times during the 20 weeks of the study. These admissions will occur at the
start of the study and at weeks 8, 12, and 20. The first NIH visit will last 2 days, and
the other visits will last 1 day.
- Patients will participate in a two-stage study: a period of 8 weeks receiving NAC and a
second period of 8 weeks when receiving a placebo (a pill without NAC). Every patient
participating in this study will receive NAC during one of the two time periods.
- The two treatment periods will be separated by a wash-out period, 4 weeks when patients
will receive neither NAC nor placebo. Patients will also have a 4-week wash-out period
at the beginning of the study. Most physician-prescribed medications, such as seizure
medications, will be allowed.
- During each visit, examinations, procedures, and tests will be done, including blood and
urine samples.
Phase:
Phase 1/Phase 2
Details
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators:
National Human Genome Research Institute (NHGRI) University of Oxford Washington University School of Medicine