Correlation Between Haptoglobin Phenotypes and Infectious and Other Complications in Cystic Fibrosis Patients

Study Overview
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Brief Summary
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Cystic Fibrosis is a genetic disease with variable severity, and a predisposition for lung infection. Usually severity is determined by the class of CF mutations, but even among patients with the same severity of mutations there is a variation of the severity of CF. Haptoglobin has several types (phenotypes), one of them was found to be related to infectious complications. In this study the investigators aim to find a correlation between Haptoglobin phenotypes in patients with CF and frequency of infectious complications. To this end the investigators will collect serum from CF patients, and determine their Haptoglobin protein phenotype. The investigators will correlate Haptoglobin phenotype to retrospectively gathered data on infectious complications.

Detailed Description
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Cystic Fibrosis is a genetic disease with variable severity, and a predisposition for lung infection. The severity of the disease is determined by genetic factors (type of mutation), environmental factors (exposure to bacteria) and behavioral (adherence with therapy). Even among patients with the same severity of mutations there is a variation of the severity of CF. Haptoglobin is a protein responsible for collecting Iron from senescent Red Blood Cells. There are two genes of Haptoglobin, numbered 1 and 2, and combinations between the two genes create three forms of proteins: 1-1, 1-2, and 2-2. The 1-1 Phenotype was found to be associated with a predisposition to infection. In this study the investigators aim to find a correlation between Haptoglobin phenotypes in patients with CF and frequency of infectious complications. To this end the investigators will collect serum from CF patients, and determine their Haptoglobin protein phenotype by gel- electrophoresis. The investigators will correlate Haptoglobin phenotype to retrospectively gathered data on infectious complications. FEV1- Forced Expiratory Volume in 1 second.

Official Title
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Correlation Between Haptoglobin Phenotypes and Infectious and Other Complications in Cystic Fibrosis Patients

Conditions
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Cystic Fibrosis

Intervention / Treatment
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* Other: no intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients diagnosed with CF according to diagnostic criteria , between the ages of 0 and 50, who are themselves, or their parents or guardians, able to give informed consent. Two known severe (class I , II and III) mutations Exclusion Criteria: none

Ages Eligible for Study
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Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Cystic Fibrosis Patients<br>Patients with Cystic Fibrosis with two known severe (class I and class II) mutations | Other: no intervention<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| FEV1 | Lung function as determined by spirometry FEV1 (% expected), normalized by age | best in last 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of antibiotic courses per year of follow up | number of courses of antibiotics the patient received in the last year | one year | 
| Number of days with antibiotics per year of follow up | number of days the patient received antibiotics | one year | 
| Number Hospitalizations per year | events of hospitalization | one year | 
| Colonization with bacteria | colonization of the following bacteria: Pseudomonas aeruginosa (mucoid and non mucoid), Staph aureus (MSSA and MRSA), Hemophilus influenza, Burkholderia Cepacia complex | one year | 
| Presence of CF related diabetes | presence of CF related diabetes and HbA1C for diabetic patients. | five years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Cystic Fibrosis, Haptoglobin