BioCyFi: Biomarker for Cystic Fibrosis

Sponsor

CENTOGENE GmbH Rostock (Industry)

Overall Status

Active, not recruiting

CT.gov ID

NCT02710383

Collaborator

(none)

1,000

Enrollment

Locations

63.4

Anticipated Duration (Months)

200

Patients Per Site

3.2

Patients Per Site Per Month

Study Details

Study Description

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

Condition or Disease	Intervention/Treatment	Phase
Chronic Nasal Congestion Lung Infection Breathlessness Clubbing Toes Meconium Ileus Failure to Thrive Pancreatitis

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 Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Aug 20, 2018

Anticipated Primary Completion Date :

Dec 1, 2023

Anticipated Study Completion Date :

Dec 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
Participants genetically diagnosed with Cystic fibrosis Participants diagnosed with Cystic fibrosis aged between 2 months and 50 years

Outcome Measures

Primary Outcome Measures

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

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Months to 50 Years

Sexes Eligible for Study:

All

Accepts 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

Contacts and Locations

Locations

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