Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease

• Register: ClinicalTrials.gov
• Last refreshed on: 16 December 2017
• Main ID: NCT01147042
• Date of registration: 17/06/2010
• Prospective Registration: No
• Primary sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
• Public title: Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
• Scientific title: Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
• Date of first enrolment: May 18, 2010
• Target sample size: 2
• Recruitment status: Terminated
• URL: https://clinicaltrials.gov/show/NCT01147042
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Sequential Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 4

Countries of recruitment

United States

Contacts

• Name: John I Gallin, M.D.
• Affiliation: National Institute of Allergy and Infectious Diseases (NIAID)

Key inclusion & exclusion criteria

- INCLUSION CRITERIA:

Subjects may be enrolled if they are:

1. Already are enrolled on an existing CGD protocol at the Clinical Center (and will
remain enrolled on their existing protocol);

2. Are included in one of the study cohorts listed below;

3. Male or female;

4. Able to comply with self-administration of a subcutaneous injection; and

5. Willing to have their blood samples stored for the duration of this study and for
future research.

Study Groups/Cohorts:

X-linked CGD Nonsense/Frameshift/RNA Processing/Deletion Mutations Cohort: Subjects in this
cohort must have X-linked CGD resulting from a documented nonsense, frameshift, RNA
processing, or deletion gene mutation. Subjects with other gene defects or for whom the
specific genetic defect has not been determined are not eligible for inclusion in this
cohort.

X-linked CGD Missense Mutation with Low Baseline Superoxide Production (less than or equal
to 2.5 nmol/10(6) cells/hr) Cohort: Subjects in this cohort must have X-linked CGD
resulting from a documented missense gene and superoxide production by cytochrome c
reduction assay at baseline of less than or equal to 2.5 nmol/10(6) cells/hr. Subjects with
other gene defects or for whom the specific genetic defect has not been determined are not
eligible for inclusion in this cohort.

X-linked CGD Missense Mutation with Higher Baseline Superoxide Production (greater than 2.5
nmol/10(6) cells/hr) Cohort: Subjects in this cohort must have X-linked CGD resulting from
a documented missense gene and superoxide production by cytochrome c reduction assay at
baseline of greater than 2.5 nmol/10(6) cells/hr. Subjects with other gene defects or for
whom the specific genetic defect has not been determined are not eligible for inclusion in
this cohort.

Autosomal Recessive p47phox CGD Cohort: Subjects in this cohort must have autosomal
recessive CGD resulting from a documented p47phox gene mutation. Subjects with other gene
defects or for whom the specific genetic defect has not been determined are not eligible
for inclusion in this cohort.

Autosomal Recessive p67phox CGD Cohort: Subjects in this cohort must have autosomal
recessive CGD resulting from a documented p67phox gene mutation. Subjects with other gene
defects or for whom the specific genetic defect has not been determined are not eligible
for inclusion in this cohort.

EXCLUSION CRITERIA:

Subjects are excluded from the study who:

1. Have undergone successful bone marrow transplantation;

2. Had a serious adverse reaction to IFN gamma in the past;

3. Are pregnant or breast feeding;

4. Weigh less than 11 kg;

5. Are currently on therapy with INF gamma;

6. Have any of the following medical conditions:

- Coronary artery disease;

- Hepatic disease and/or liver enzymes elevated above 3 times normal;

- Seizure disorder, or

- Severe myelosuppression (absolute neutrophil count less than1000 cells/mm(3)).

Participation of Minors: minor patients will be invited to participant in this study.

Participation of Women: Exposure to IFN gamma by the developing human fetus may be
detrimental. For this reason, women of childbearing-age will have a pregnancy test prior to
undergoing study procedures. Should a woman become pregnant or suspect that she is pregnant
while participating in this study, she should immediately inform study staff and her
primary care physician.

Pregnancy and Lactation: The effects of IFN gamma therapy on the developing fetus and
newborn infant have not been studied. Therefore, it is not recommended that subjects who
are pregnant or breast-feeding receive IFN gamma and they will be excluded from this study.



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

Health Condition(s) or Problem(s) studied

Immunodeficiency Disease

CGD - Chronic Granulomatous Disease

IFN-Gamma Therapy

CGD Gene Mutation

CGD Response to IFNg

Intervention(s)

Drug: IFN-gamma

Primary Outcome(s)

Basal and PMA-stimulated O2 Production Detected by Ferricytochrome c Reduction in Neutrophils [Time Frame: 21 weeks]

Secondary ID(s)

100123

10-I-0123

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Results

• Results available: Yes
• Date Posted: 20/09/2017
• URL: https://clinicaltrials.gov/ct2/show/results/NCT01147042