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Status:

WITHDRAWN

Biomarker for Farber Disease (BioFarber)

Lead Sponsor:

CENTOGENE GmbH Rostock

Conditions:

Farber's Lipogranulomatosis

Ceramidase Deficiency

Eligibility:

All Genders

2+ years

Brief Summary

Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Farber disease from the blood

Detailed Description

Farber disease (FD), also known as Farber's lipogranulomatosis, is an autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase which causes a progressive accumulation ...

Eligibility Criteria

Inclusion

  • INCLUSION CRITERIA
  • 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:
  • \- 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 gender younger than 2 months
  • No diagnosis of Farber disease or no valid criteria for profound suspicion of Farber disease

Exclusion

    Key Trial Info

    Start Date :

    August 20 2018

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ACTUAL

    End Date :

    February 28 2021

    Estimated Enrollment :

    Patients enrolled

    Trial Details

    Trial ID

    NCT02298634

    Start Date

    August 20 2018

    End Date

    February 28 2021

    Last Update

    February 13 2023

    Active Locations (3)

    Enter a location and click search to find clinical trials sorted by distance.

    Page 1 of 1 (3 locations)

    1

    Children Hospital, Faculty of Medicine, Cairo University

    Cairo, Egypt, 11511

    2

    Centogene AG

    Rostock, Germany, 18055

    3

    Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

    Mumbai, India, 400705