Clinical trial NCT02710383: Biomarker for Cystic Fibrosis
Official title: Biomarker for Cystic Fibrosis: An International, Multicenter, Observational, Longitudinal Protocol
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Chronic Nasal Congestion
Lung Infection
Breathlessness
Clubbing Toes
Meconium Ileus
Failure to Thrive
Pancreatitis
Keywords: Cystic Fibrosis
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2016-03-16
Enrollment: 54
Sex: ALL
Minimum age (years): 2
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants genetically diagnosed with Cystic fibrosis

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.

Eligibility criteria: 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

Primary outcomes:
measure: Identification of Cystic fibrosis biomarker/s
timeFrame: 36 months
Secondary outcomes:
measure: Exploring the clinical robustness, specificity, and long-term variability of Cystic fibrosis biomarker/s
timeFrame: 36 months
Other outcomes:
Locations:
city: Tirana
country: Albania
facility: University Hospital Center Mother Teresa
city: Tbilisi
country: Georgia
facility: Department of Molecular and Medical Genetics, Tbilisi State Medical University
city: Cochin
country: India
facility: Amrita Institute of Medical Sciences & Research Centre
state: Kerala
city: Lahore
country: Pakistan
facility: Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
city: Colombo 8
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof. Dr.
role: STUDY_CHAIR
References: