NCT02298634

Brief Summary

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

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
3 countries

3 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 23, 2014

Completed
1 month until next milestone

First Posted

Study publicly available on registry

November 24, 2014

Completed
3.7 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

October 23, 2014

Last Update Submit

February 9, 2023

Conditions

Farber's LipogranulomatosisCeramidase DeficiencyHepatomegalySplenomegaly

Keywords

Lysosomal Storage DiseasesLipogranulomatosisFarber diseaseBiomarker

Outcome Measures

Primary Outcomes (1)

  • Sequencing of the Farber disease related gene

    Next-Generation Sequencing (NGS) of the ASAH1 gene will be performed. The mutation will be confirmed by Sanger sequencing.

    4 weeks

Secondary Outcomes (1)

  • The Farber disease specific biomarker candidates finding

    24 months

Study Arms (1)

Observation

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

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • 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
  • \- 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Children Hospital, Faculty of Medicine, Cairo University

Cairo, 11511, Egypt

Location

Centogene AG

Rostock, 18055, Germany

Location

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

Mumbai, 400705, India

Location

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

MeSH Terms

Conditions

Farber LipogranulomatosisHepatomegalySplenomegalyLysosomal Storage DiseasesErdheim-Chester Disease

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism DisordersLiver DiseasesDigestive System DiseasesHypertrophyPathological Conditions, AnatomicalPathological Conditions, Signs and SymptomsHistiocytosis, Non-Langerhans-CellHistiocytosisLymphatic DiseasesHemic and Lymphatic Diseases

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 23, 2014

First Posted

November 24, 2014

Study Start

August 20, 2018

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

February 13, 2023

Record last verified: 2023-02

Locations

DE(1)IN(1)EG(1)