Biomarker for Cystic Fibrosis (BioCyFi)

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

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

Study Overview

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

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 Type: Observational
• Enrollment (Actual): 54

Contacts and Locations

Study Locations

• Albania
  • Tirana, Albania, 10001
    • University Hospital Center Mother Teresa
• Georgia
  • Tbilisi, Georgia, 0177
    • Department of Molecular and Medical Genetics, Tbilisi State Medical University
• India
  • Kerala
    • Cochin, Kerala, India, 682041
      • Amrita Institute Of Medical Sciences & Research Centre
• Pakistan
  • Lahore, Pakistan, 54600
    • Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
• Sri Lanka
  • Colombo 8, Sri Lanka, 00800c
    • Lady Ridgeway Hospital for Children

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 months to 50 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Participants genetically diagnosed with Cystic fibrosis

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Participants genetically diagnosed with Cystic fibrosis; Participants diagnosed with Cystic fibrosis aged between 2 months and 50 years

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: CENTOGENE GmbH Rostock

Publications and helpful links

Helpful Links

• CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients

Study record dates

Study Major Dates

• Study Start (ACTUAL): August 20, 2018
• Primary Completion (ACTUAL): December 31, 2022
• Study Completion (ACTUAL): December 31, 2022

Study Registration Dates

• First Submitted: March 11, 2016
• First Submitted That Met QC Criteria: March 11, 2016
• First Posted (ESTIMATE): March 16, 2016

Study Record Updates

• Last Update Posted (ACTUAL): February 10, 2023
• Last Update Submitted That Met QC Criteria: February 8, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Keywords: Biomarker; Cystic Fibrosis
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Respiration Disorders; Lung Diseases; Gastrointestinal Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Intestinal Diseases; Signs and Symptoms, Respiratory; Pancreatic Diseases; Intestinal Obstruction; Fibrosis; Cystic Fibrosis; Pancreatitis; Failure to Thrive; Dyspnea; Meconium Ileus
• Other Study ID Numbers: BCF 06-2018

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No