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Trial record 7 of 1229 for:    cystic fibrosis

Biomarker for Patients With Cystic Fibrosis (BioCyFi) (BioCyFi)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02710383
Recruitment Status : Recruiting
First Posted : March 16, 2016
Last Update Posted : June 17, 2019
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystic Fibrosis from dry-blood spot sample

Condition or disease
Mucoviscidosis Hereditary Disease

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Cystic Fibrosis

Patients with Cystic Fibrosis or high-grade suspicion for Cystic Fibrosis

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Cystic Fibrosis or high-grade suspicion for Cystic Fibrosis


  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both genders older than 2 months
  • The patient has a diagnosis of Cystic Fi- brosis or a high-grade suspicion for Cystic Fibrosis
  • High-grade suspicion present, if one or more inclusion criteria are valid:

    1. - Positive family anamnesis for a Cystic Fibrosis
    2. - A persistent cough that produces thick (sputum) mucus
    3. - Breathlessness
    4. - Repeated lung infections
    5. - Inflamed nasal passages or a stuffy nose


  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 months
  • No diagnosis of a Cystic Fibrosis or no valid criteria for profound suspicion of a Cystic Fibrosis

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02710383

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Contact: Arndt Rolfs, Prof +4938180113500 ext 500

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Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.         
Ain Shams University, Medical Genetic Center Recruiting
Cairo, Egypt
Contact: Solaf Elsayed         
National Research Center Recruiting
Cairo, Egypt
Contact: Hala El Bassyouni         
Tbilisi State Medical University Recruiting
Tbilisi, Georgia
Contact: Tinatin Tkemaladze, Dr         
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.         
Children Hospital and Institute of Child Health Recruiting
Lahore, Pakistan
Contact: Huma Cheema         
Spitalul Clinic de Urgenta Pentru Copii Louis Turcanu Recruiting
Timişoara, Romania
Contact: Adela Chirita         
Sponsors and Collaborators
Centogene AG Rostock
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Principal Investigator: Arndt Rolfs, MD Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock Identifier: NCT02710383     History of Changes
Other Study ID Numbers: BCF 06-2018
First Posted: March 16, 2016    Key Record Dates
Last Update Posted: June 17, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Cystic Fibrosis
Additional relevant MeSH terms:
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Cystic Fibrosis
Genetic Diseases, Inborn
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Infant, Newborn, Diseases