Clinical trial NCT03548818: Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease
Official title: Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Chronic Granulomatous Disease
Lead sponsor: University of Colorado, Denver
Sponsor class: OTHER
First posted: 2018-06-07
Enrollment: 9
Sex: ALL
Minimum age (years): 5
Maximum age (years): 60
Standard ages: CHILD
ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: The Investigators plan to enroll children and adults, aged 5-60 years with CGD defined by functional and biochemical or genetic testing. Enrollment will be stratified by the four main variants: X-linked, gp91phox deficient patients, and autosomal recessive CGD (p47phox deficient, p67phox deficient, and p22phox deficient patients).

Brief summary: The overall goal of the study is to investigate the functional, biochemical, and gene expression effects of Interferon-gamma 1-b (IFN-γ) on the neutrophils of patients with Chronic Granulomatous Disease (CGD). The investigators hypothesize that the clinical effects demonstrated in patients with CGD treated with IFN-γ (decreased number and severity of infections) are the result of biochemical processes and upregulation of specific genes, which lead to enhanced functionality of this immune cell population.


Eligibility criteria: Inclusion Criteria:

* Current treatment with IFN-γ or intent to treat with this drug
* Acute infections resolved
* Subject is off treatment medications
* Women of childbearing potential must have:

  * a negative urine beta-HCG, and
  * be willing to practice two forms of effective contraception for the duration of study participation

Exclusion Criteria:

* Pregnancy,
* Breast-feeding, or
* Unwillingness to use effective contraception
* Recent vaccination (within the last fourteen days)
* Current infection or acute health condition requiring treatment
* Chronic inflammatory complications of CGD including:

  * gastric outlet or urinary tract obstruction,
  * pleuritis,
  * pericarditis,
  * inflammatory bowel disease, or
  * colitis requiring treatment.
* Un-associated chronic lung, liver, kidney, or cardiac disorders requiring active treatment

Primary outcomes:
measure: Changes in Neutrophil bacterialcidal activity in patients with Chronic Granulomatous Disease (CGD) on standard treatment schedule and dose of IFN-γ in comparison to results for the patients off IFN-γ.
timeFrame: 1 week off drug, 12 hours after a week of treatment
measure: Changes in Gene expression as measured with RNA and affimetrics gene chips in patients with Chronic Granulomatous Disease (CGD) on standard treatment schedule and dose of IFN-γ in comparison to results for the patients off IFN-γ.
timeFrame: 1 week off drug, 12 hours after a week of treatment
Secondary outcomes:
measure: Differences in Neutrophil biochemical studies in patients with Chronic Granulomatous Disease (CGD) on standard treatment schedule and dose of IFN-γ in comparison to results for the patients off IFN-γ.
timeFrame: 1 week off drug, 12 hours after first dose of IFN-gamma; 12 hours after a week of treatment
Other outcomes:
Locations:
city: Aurora
country: United States
facility: University of Colorado Anschutz Medical Campus
state: Colorado
Study officials:
affiliation: University of Colorado, Denver
name: Daniel R. Ambruso, MD
role: PRINCIPAL_INVESTIGATOR
References: