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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational




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

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 Summary:

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 CH
Sponsor: Rambam Health Care Campus




Current Primary Outcome: CHIT1 genotyping [ Time Frame: Baseline ]

In peripheral blood.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • IgE [ Time Frame: Baseline ]
    peripheral blood count
  • Eosinophils [ Time Frame: Baseline ]
    peripheral blood count
  • skin test for aspergillus [ Time Frame: Baseline ]
    skin prick test
  • galactomannan [ Time Frame: Baseline ]
    peripheral blood count
  • pulmonary function test [ Time Frame: Baseline ]
    spirometry
  • RAST test [ Time Frame: Baseline ]
    Radioallergosorbent test (RAST) for molds


Original Secondary Outcome:

  • IgE [ Time Frame: Baseline ]
    peripheral blood count
  • Eosinophils [ Time Frame: Baseline ]
    peripheral blood count
  • skin test for aspergillus [ Time Frame: Baseline ]
    skin prick test
  • galactomanan [ Time Frame: Baseline ]
    peripheral blood count
  • pulmonary function test [ Time Frame: Baseline ]
    spirometry
  • RAST test [ Time Frame: Baseline ]
    Radioallergosorbent test (RAST) for molds


Information By: Rambam Health Care Campus




Dates:
Date Received: April 4, 2012
Date Started: December 2010
Date Completion:
Last Updated: June 27, 2016
Last Verified: June 2016