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Biomarker for Farber Disease (BioFarber) (BioFarber)

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: NCT02298634
Recruitment Status : Recruiting
First Posted : November 24, 2014
Last Update Posted : September 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 Farber disease from the blood

Condition or disease
Farber's Lipogranulomatosis Ceramidase Deficiency Hepatomegaly Splenomegaly

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : July 2021
Estimated Study Completion Date : July 2021

Patients with Farber disease or high-grade suspicion for Farber disease

Primary Outcome Measures :
  1. Sequencing of the Farber disease related gene [ Time Frame: 4 weeks ]
    Next-Generation Sequencing (NGS) of the ASAH1 gene will be performed. The mutation will be confirmed by Sanger sequencing.

Secondary Outcome Measures :
  1. The Farber 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

For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample will be taken via using a dry blood spot filter card. To proof the correct Farber diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Farber will be done.

The analyses will be done at:

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 Farber disease or high-grade suspicion for Farber disease


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

    1. - Positive family anamnesis for Farber disease
    2. - Hoarse cry due to laryngeal involvement
    3. - Dysostosis multiplex
    4. - Painful swollen joints,
    5. - Arthritis
    6. - Hepatomegaly
    7. - Splenomegaly
    8. - Elevated urine ceramide levels
    9. - Histiocytic infiltration of liver, spleen, and lungs
    10. - Ceramidase deficiency


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

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): NCT02298634

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Contact: Volha Skrahina, Dr +4938180113594 ext 594

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Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.         
Centogene AG Active, not recruiting
Rostock, Germany, 18055
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.         
Sponsors and Collaborators
Centogene AG Rostock
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Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock Identifier: NCT02298634    
Other Study ID Numbers: BFD 06-2018
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: September 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:
Lysosomal Storage Diseases
Farber disease
Additional relevant MeSH terms:
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Farber Lipogranulomatosis
Erdheim-Chester Disease
Pathological Conditions, Anatomical
Liver Diseases
Digestive System Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Histiocytosis, Non-Langerhans-Cell
Lymphatic Diseases