Biomarker for Cystic Fibrosis

Terminated

• Conditions: Pancreatitis; Chronic Nasal Congestion; Clubbing Toes; Failure to Thrive; Lung Infection; Breathlessness; Meconium Ileus

• Registration Number: NCT02710383
• Lead Sponsor: CENTOGENE GmbH Rostock

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.

Study Timeline

• Study First Submitted: 2016-03-11
• Study First Submitted QC: 2016-03-11
• Study First Posted: 2016-03-16
• Study Start: 2018-08-20
• Primary Completion: 2022-12-31
• Study Completion: 2022-12-31
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-08
• Last Update Posted: 2023-02-10

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 54

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (5)

University Hospital Center Mother Teresa; 🇦🇱 Tirana, Albania

Department of Molecular and Medical Genetics, Tbilisi State Medical University; 🇬🇪 Tbilisi, Georgia

Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health; 🇵🇰 Lahore, Pakistan

Lady Ridgeway Hospital for Children; 🇱🇰 Colombo 8, Sri Lanka

Amrita Institute of Medical Sciences & Research Centre; 🇮🇳 Cochin, Kerala, India