Biomarker for Cystic Fibrosis

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

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02710383

Acronym

BioCyFi

Enrollment

Registered

2016-03-16

Start date

2018-08-20

Completion date

2022-12-31

Last updated

2023-02-10

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

Conditions

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

Keywords

Cystic Fibrosis, Biomarker

Brief summary

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

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Months to 50 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Identification of Cystic fibrosis biomarker/s	36 months	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

Secondary

Measure	Time frame	Description
Exploring the clinical robustness, specificity, and long-term variability of Cystic fibrosis biomarker/s	36 months	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.

Countries

Albania, Georgia, India, Pakistan, Sri Lanka

Outcome results