NCT02778295

Brief Summary

Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry 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withdrawn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

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 18, 2016

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 19, 2016

Completed
2.3 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

May 18, 2016

Last Update Submit

February 9, 2023

Conditions

AngiokeratomasChronic Kidney DiseaseOcular AbnormalitiesHearing Loss

Keywords

Fabry DiseaseBiomarker

Outcome Measures

Primary Outcomes (1)

  • Sequencing of the Fabry disease related gene

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

    4 weeks

Secondary Outcomes (1)

  • The Fabry disease specific biomarker candidates finding

    24 months

Study Arms (1)

Observation

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

You may qualify if:

  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both genders older than 2 months
  • The patient has a diagnosis of Fabry disease or a high-grade suspicion for Fabry disease
  • Positive family anamnesis for Fabry disease
  • Pin and burning in the hands and feet
  • Angiokeratomas
  • Gastrointestinal problems
  • Heart problems
  • Kidney problems

You may not qualify if:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 months
  • No diagnosis of Fabry disease or no valid criteria for profound suspicion of Fabry disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Centogene GmbH

Rostock, 18055, Germany

Location

NIRMAN-University of Mumbai-Institute of Research in Mental and Neurological handicap

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, a blood sample will be taken via using a dry blood spot filter card. To proof the correct Fab-ry diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Fabry disease will be done.The analyses will done at: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

AngiokeratomaRenal Insufficiency, ChronicHearing LossFabry Disease

Condition Hierarchy (Ancestors)

Neoplasms, Vascular TissueNeoplasms by Histologic TypeNeoplasmsRenal InsufficiencyKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesChronic DiseaseDisease AttributesPathologic ProcessesPathological Conditions, Signs and SymptomsHearing DisordersEar DiseasesOtorhinolaryngologic DiseasesSensation DisordersNeurologic ManifestationsNervous System DiseasesSigns and SymptomsSphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid 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

May 18, 2016

First Posted

May 19, 2016

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)SR(1)