Clinical trial NCT01572870: Duplication in CHIT1 Gene and the Risk for Aspergillus Lung Disease in CF Patients
Official title: Duplication in CHIT1 Gene and the Risk for Aspergillus Lung Disease in CF Patients
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cystic Fibrosis
Chit1
Keywords: Chit1
Cystic Fibrosis
Allergic Bronchopulmonary Aspergillosis (ABPA)
Aspergillus
Lead sponsor: Rambam Health Care Campus
Sponsor class: OTHER
First posted: 2012-04-06
Enrollment: 40
Sex: ALL
Minimum age (years): 3
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 40 Cystic Fibrosis patients: Group 1: 22 CF patients who had neither ABPA nor Aspergillus infection in the past.

Group 2: 12 CF patients with persistent Aspergillus infection, without ABPA. Group 3: 6 CF patients with current or past ABPA

Brief summary: Title: Duplication in Chitotriosidase (CHIT1) Gene and the Risk for Aspergillus Lung Disease in CF Patients.

Aim: To evaluate the link between CHIT1 duplication in CF patients and the predisposition to ABPA or persistent Aspergillus infection.

Patients: 40 CF patients. Design: Observational, single visit. Methods: All patients will be assessed for pulmonary function tests (PFT), sputum cultures, and blood tests for: CHIT1 duplication, immunoglobulin E (IgE) and Eosinophils levels. Part of the patients will be assessed for RAST, skin prick test.

Primary outcome measure is the difference in CHIT1 genotyping between the groups.

Detailed description: Title: Duplication in Chitotriosidase (CHIT1) Gene and the Risk for Aspergillus Lung Disease in CF Patients.

Introduction: Chitinases are the enzymes that digest the chitin polymer. Plants use CHIT1 as an important innate defense mechanism against fungi. CHIT1 is the major chitinase in the human airways.Variation in the coding region, with 24-bp duplication allele results in a reduced CHIT1 activity. Recently, CHIT1 duplication was found in 6/6 patients with severe asthma and fungal sensitization Aspergillus often persists in the respiratory tract of patients with Cystic Fibrosis (CF) and may cause allergic broncho pulmonary aspergillosis (ABPA).

Aim: to evaluate the link between CHIT1 duplication in CF patients and the predisposition to ABPA or persistent Aspergillus infection.

Patients: 40 CF patients divided to three groups .Group 1: patients who have neither ABPA nor Aspergillus infection in the past (the control group).Group 2: patients with persistent Aspergillus infection, without ABPA. Group 3: patients with current or past ABPA.

Design: Observational, single visit. Methods: All patients will be assessed for pulmonary function tests (PFT), sputum cultures, and blood tests for: CHIT1 duplication, IgE and Eosinophils levels.

Patient's characteristics including demographics, CF mutations, pancreatic status and sweat test will be derived from the charts.

Patients with ABPA as well as Aspergillus infection had also radioallergosorbent test (RAST) for molds, as well as skin prick test for Aspergillus and blood Galactomannan.

The primary outcome measure is the difference in CHIT1 genotyping between the groups.

Eligibility criteria: Inclusion Criteria:

* Confirmed diagnosis of Cystic Fibrosis.

Exclusion Criteria:

* Inability to produce sputum, or previous history of lung transplantation.

Primary outcomes:
measure: CHIT1 genotyping
timeFrame: Baseline
Secondary outcomes:
measure: IgE
timeFrame: Baseline
measure: Eosinophils
timeFrame: Baseline
measure: skin test for aspergillus
timeFrame: Baseline
measure: galactomannan
timeFrame: Baseline
measure: pulmonary function test
timeFrame: Baseline
measure: RAST test
timeFrame: Baseline
Other outcomes:
Locations:
city: Haifa
country: Israel
facility: Rambam health care campus
Study officials:
affiliation: Rambam Health Care Campus
name: Lea Bentur, Prof.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Livnat G, Bar-Yoseph R, Mory A, Dagan E, Elias N, Gershoni R, Bentur L. Duplication in CHIT1 gene and the risk for Aspergillus lung disease in CF patients. Pediatr Pulmonol. 2014 Jan;49(1):21-7. doi: 10.1002/ppul.22749. Epub 2013 Jan 28.