Biomarker for Patients With Cystic Fibrosis (BioCyFi) (BioCyFi)
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|ClinicalTrials.gov Identifier: NCT02710383|
Recruitment Status : Recruiting
First Posted : March 16, 2016
Last Update Posted : June 17, 2019
|Condition or disease|
|Mucoviscidosis Hereditary Disease|
Cystic Fibrosis (CF) is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The feature of the disorder and their severity varies among affected individuals.
The abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.
Most people with CF also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. In people with CF, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus.
Adults with CF experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens, a condition in which the tubes that carry sperm are blocked by mucus and do not develop properly.
Mutations in the CFTR gene cause CF. CFTR gene provides instructions for making a channel that transports chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells. For example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.
New methods, like mass-spectrometry, give a good chance to characterize specific metabolic alterations in the blood of affected patients, that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Biomarker for Patients With Cystic Fibrosis - An Inter- National, Multicenter, Epidemiological Protocol|
|Actual Study Start Date :||August 20, 2018|
|Estimated Primary Completion Date :||June 2021|
|Estimated Study Completion Date :||June 2021|
Patients with Cystic Fibrosis or high-grade suspicion for Cystic Fibrosis
- Sequencing of the Cystic Fibrosis disease related gene [ Time Frame: 4 weeks ]Next-Generation Sequencing (NGS) of the CFTR gene will be performed. The mutation will be confirmed by Sanger sequencing.
- The Cystic Fibrosis disease specific biomarker candidates finding [ Time Frame: 24 months ]The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.
Biospecimen Retention: Samples With DNA
Laboratory Blood Test
For the development of the new biomarkers using the technique of Mass-spectrometry, a blood sample will be taken via using a dry-blood-spot filter card. To proof the correct diagnosis of a Cystic Fibrosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of a Cystic Fibrosis will be done.
The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02710383
|Contact: Arndt Rolfs, Prof||+4938180113500 ext firstname.lastname@example.org|
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|Principal Investigator:||Arndt Rolfs, MD||Centogene AG Rostock|