Duplication in CHIT1 Gene and the Risk for Aspergillus Lung Disease in CF Patients

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01572870

Enrollment

Registered

2012-04-06

Start date

2010-12-31

Completion date

2011-09-30

Last updated

2016-06-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Chit1, Cystic Fibrosis

Keywords

Chit1, Cystic Fibrosis, Allergic Bronchopulmonary Aspergillosis (ABPA), Aspergillus

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

3 Years to 50 Years

Healthy volunteers

Inclusion criteria

* Confirmed diagnosis of Cystic Fibrosis.

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame	Description
CHIT1 genotyping	Baseline	In peripheral blood.

Secondary

Measure	Time frame	Description
Eosinophils	Baseline	peripheral blood count
skin test for aspergillus	Baseline	skin prick test
IgE	Baseline	peripheral blood count
pulmonary function test	Baseline	spirometry
RAST test	Baseline	Radioallergosorbent test (RAST) for molds
galactomannan	Baseline	peripheral blood count

Countries

Israel

Outcome results