Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine

• Register: ClinicalTrials.gov
• Last refreshed on: 19 October 2017
• Main ID: NCT00975689
• Date of registration: 10/09/2009
• Prospective Registration: No
• Primary sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Public title: Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
• Scientific title: Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
• Date of first enrolment: August 2009
• Target sample size: 35
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT00975689
• Study type: Interventional
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: Forbes D Porter, M.D.
• Affiliation: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Key inclusion & exclusion criteria

- 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:

1. Diagnosis of NPC by cellular assay or molecular testing.

2. Twelve months of age or older and weight greater than 10 kg.

3. Patient must be able to take the study medication orally or per gastrostomy tube.

EXCLUSION CRITERIA:

1. 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.

2. Patients will be excluded if they are unable to tolerate the study procedures.

3. 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.

4. Patients will be excluded if they have had prior allergic or hypersensitivity symptoms
associated with NAC use.

5. 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

6. 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.

7. 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.

8. Patients will be excluded if they have an uncontrolled seizure disorder.

9. 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.

10. Patient who are at risk for gastric hemorrhage (preexisting esophageal varices or
peptic ulcer disease).

11. Patients on a sodium restricted diet for medical reasons.

12. 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



Age minimum: 12 Months
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Niemann-Pick Disease, Type C

Intervention(s)

Drug: N-Acetyl Cysteine

Primary Outcome(s)

Oxysterol Levels [Time Frame: Six months]

Secondary ID(s)

090185

09-CH-0185

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

University of Oxford

Washington University School of Medicine

National Human Genome Research Institute (NHGRI)

Results

• Results available: Yes
• Date Posted: 12/07/2012
• URL: https://clinicaltrials.gov/ct2/show/results/NCT00975689