Trial record 4 of 10 for: "Lipogranulomatosis"

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Biomarker for Farber Disease (BioFarber)

This study is currently recruiting participants.

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Contacts and Locations

Verified September 2016 by Prof. Dr. Arndt Rolfs, University of Rostock

Sponsor:

Collaborator:

Centogene AG Rostock

Information provided by (Responsible Party):

Prof. Dr. Arndt Rolfs, University of Rostock

ClinicalTrials.gov Identifier:

NCT02298634

First received: October 23, 2014

Last updated: September 22, 2016

Last verified: September 2016

History of Changes

Purpose

Development of a new MS-based biomarker for the early and sensitive diagnosis of Farber disease from plasma and saliva. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Condition
Farber's Lipogranulomatosis Ceramidase Deficiency Farber Disease Acid Ceramidase Deficiency AC Deficiency


Study Type:	Observational
Study Design:	Observational Model: Cohort Time Perspective: Prospective
Official Title:	Biomarker for Farber Disease - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Resource links provided by NLM:

Genetics Home Reference related topics: Erdheim-Chester disease Farber lipogranulomatosis Schindler disease

Genetic and Rare Diseases Information Center resources: Lipogranulomatosis Erdheim-Chester Disease Farber's Disease Sphingolipidosis

U.S. FDA Resources

Further study details as provided by Prof. Dr. Arndt Rolfs, University of Rostock:

Primary Outcome Measures:

Development of a new MS-based biomarker for the early and sensitive diagnosis of Farber disease using the technique of Mass-spectometry 10ml EDTA blood, saliva tube and a dry blood spot filter card [ Time Frame: 36 month ]

Secondary Outcome Measures:

Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 month ]

Biospecimen Retention: Samples With DNA

For the development of the new biomarkers using the technique of Mass-spectometry 10ml EDTA blood, saliva tube and a dry blood spot filter card are taken. To proof the correct diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing will be done. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)


Estimated Enrollment:	50
Study Start Date:	November 2014
Estimated Study Completion Date:	November 2017
Estimated Primary Completion Date:	September 2017 (Final data collection date for primary outcome measure)

Groups/Cohorts
Observation Patients with a diagnosis of Farber disease based upon biochemical and/or genetic criteria or profound suspicion for Farber disease

Show Detailed Description

Eligibility


Ages Eligible for Study:	2 Months and older (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Patients with a diagnosis of Farber disease or profound suspicion for Farber disease

Criteria

Inclusion Criteria:

Informed consent will be obtained from the parents before any study related procedures.
Patients of both genders older than 2 month
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:

Positive family anamnesis for Farber disease
Hoarse cry due to laryngeal involvement dysostosis multiplex
Painful swollen joints, Arthritis
Hepatomegaly, Splenomegaly
Elevated urine ceramide levels, Histiocytic infiltration of liver, spleen, and lungs,
Ceramidase deficiency

Exclusion Criteria:

No Informed consent from the parents before any study related procedures
Patients of both genders younger than 2 month
No diagnosis of Farber disease or no valid criteria for high-grade suspicion of Farber disease

Contacts and Locations

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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02298634

Contacts


Contact: Arndt Rolfs, Prof.	+49 381 494 ext 9540	arndt.rolfs@med.uni-rostock.de
Contact: Susanne Zielke	+49 381 494	susanne.zielke@med.uni-rostock.de

Locations


Germany
Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock	Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, Prof. +49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de

Sponsors and Collaborators

University of Rostock

Centogene AG Rostock

Investigators


Principal Investigator:	Arndt Rolfs, Prof.	University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

More Information


Responsible Party:	Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier:	NCT02298634 History of Changes
Other Study ID Numbers:	BFD 07-2014
Study First Received:	October 23, 2014
Last Updated:	September 22, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	Undecided

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:


Lysosomal Storage Diseases Lipogranulomatosis

Additional relevant MeSH terms:


Farber Lipogranulomatosis Erdheim-Chester Disease Sphingolipidoses 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 Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Histiocytosis, Non-Langerhans-Cell Histiocytosis Lymphatic Diseases

ClinicalTrials.gov processed this record on July 14, 2017

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