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.|
|ClinicalTrials.gov Identifier: NCT02298634|
Recruitment Status : Recruiting
First Posted : November 24, 2014
Last Update Posted : September 17, 2019
|Condition or disease|
|Farber's Lipogranulomatosis Ceramidase Deficiency Hepatomegaly Splenomegaly|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|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
- 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.
- 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
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 ClinicalTrials.gov identifier (NCT number): NCT02298634
|Contact: Volha Skrahina, Dr||+4938180113594 ext firstname.lastname@example.org|
|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.|
|Principal Investigator:||Arndt Rolfs, Prof.||Centogene AG Rostock|