Biomarker for Cystic Fibrosis

Study Overview
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Brief Summary
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International, multicenter, observational, longitudinal study to identify biomarker/s for Cystic fibrosis and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s

Detailed Description
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Cystic fibrosis (CyFi) is a progressive hereditary disease with the prevalence of 1 in 2500. CyFi is an autosomal recessive disease caused by pathogenic variant/s in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene encoding Cftr protein. CyFi causes chronic respiratory damage. Pulmonary findings occur already in infancy, which raises questions whether obstruction might be congenital. Thick, sticky mucus clogs the airways, reduces muco-ciliary clearance and leads to problems with breathing and recurrent bacterial (Pseudomonas aeruginosa) infections, which causes over time the formation of scar tissue (fibrosis) and cysts in the lungs.There is no cure for CyFi; however, symptomatic treatment can help relieve symptoms. The aim of this study is to identify biomarkers for Cystic fibrosis disease and to explore their clinical robustness, specificity, and long-term variability. An ideal biomarker plays an essential role in the early diagnosis, prediction and therapeutic monitoring of a specific disorder.

Official Title
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Biomarker for Cystic Fibrosis: An International, Multicenter, Observational, Longitudinal Protocol

Conditions
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Chronic Nasal Congestion, Lung Infection, Breathlessness, Clubbing Toes, Meconium Ileus, Failure to Thrive, Pancreatitis

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: Informed consent is obtained from the participant or the parent/ legal guardian The participant is aged between 2 months and 50 years The diagnosis of Cystic fibrosis is genetically confirmed by CENTOGENE EXCLUSION CRITERIA: Informed consent is not obtained from the participant or from the parent/ legal guardian The participant is younger than 2 months or older than 50 years The diagnosis of Cystic fibrosis is not genetically confirmed by CENTOGENE

Ages Eligible for Study
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Minimum Age: 2 Months
Maximum Age: 50 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 |
| --- | --- |
| Participants genetically diagnosed with Cystic fibrosis<br>Participants diagnosed with Cystic fibrosis aged between 2 months and 50 years | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of Cystic fibrosis biomarker/s | All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC | 36 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Exploring the clinical robustness, specificity, and long-term variability of Cystic fibrosis biomarker/s | Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC. | 36 months | 

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