NCT01331642

Brief Summary

Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)

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

4 active sites

Status
withdrawn

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

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

April 6, 2011

Completed
2 days until next milestone

First Posted

Study publicly available on registry

April 8, 2011

Completed
7.4 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

April 6, 2011

Last Update Submit

February 9, 2023

Conditions

SplenomegalyHepatomegaly

Keywords

Gaucher DiseaseBiomarker

Outcome Measures

Primary Outcomes (1)

  • Sequencing of the Gaucher disease related gene

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

    4 weeks

Secondary Outcomes (1)

  • The Gaucher disease specific biomarker candidates finding

    24 months

Study Arms (1)

Observation

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

Eligibility Criteria

Age1 Day+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both gender from the first day of life
  • The patient has a diagnosis of Gaucher disease or high-grade suspicion for Gaucher disease
  • High-grade suspicion present, if one or more criteria are valid:
  • \- Positive family anamnesis for Gaucher disease
  • \- Splenomegaly without identifiable cause
  • \- Hepatomegaly without identifiable cause
  • \- Anemia or thrombocytopenia without identifiable cause
  • \- CNS involvement without identifiable cause

You may not qualify if:

  • No Informed consent from the patient or the parents before any study related pro-cedures
  • No diagnosis of Gaucher disease or no valid criteria for high-grade suspicion of Gaucher disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Centogene AG

Rostock, 18055, Germany

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Location

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

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 10 ml blood will be taken via using a dry blood spot filter card and will be ana-lysed. (Optionally, also 10 ml urine will be taken via urine-collection tube). To proof the correct Gaucher diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Gaucher will be done. The analyses will done at: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

SplenomegalyHepatomegalyGaucher Disease

Condition Hierarchy (Ancestors)

HypertrophyPathological Conditions, AnatomicalPathological Conditions, Signs and SymptomsLiver DiseasesDigestive System DiseasesSphingolipidosesLysosomal 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 ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

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

April 6, 2011

First Posted

April 8, 2011

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(2)SR(1)