Biomarker for Cystic Fibrosis

Pancreatitis Clinical Trial

— BioCyFi  

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02710383
• Other study ID #: BCF 06-2018
• Status: Terminated
• Start date: August 20, 2018
• Est. completion date: December 31, 2022

Study information

• Verified date: February 2023
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 54
• Est. completion date: December 31, 2022
• Est. primary completion date: December 31, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Months to 50 Years

Eligibility

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

Related Conditions & MeSH terms

• Breathlessness
• Chronic Nasal Congestion
• Clubbing Toes
• Cystic Fibrosis
• Dyspnea
• Failure to Thrive
• Fibrosis
• Lung Infection
• Meconium Ileus
• Pancreatitis

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

Albania,  Georgia,  India,  Pakistan,  Sri Lanka, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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

External Links

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