Clinical trial · Observational
Biomarker for Patients With Fabry Disease (BioFabry)
Biomarker for Fabry Disease: BioFabry AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
NCT02778295CI-TRIAL-00063886BioFabrywithdrawnClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Why stopped (as posted): Transition into BioMetabol
Summary
Brief summary (as posted)
Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry disease from the blood
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Angiokeratomas | — | UNRESOLVED | — |
| Chronic Kidney Disease | — | UNRESOLVED | — |
| Hearing Loss | — | UNRESOLVED | — |
| Ocular Abnormalities | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (1)
- label
- Observation
- description
- Patients with Fabry disease or high-grade suspicion for Fabry disease
Primary outcomes (1)
- measure
- Sequencing of the Fabry disease related gene
- timeFrame
- 4 weeks
- description
- Next-Generation Sequencing (NGS) of the GLA gene will be performed. The mutation will be confirmed by Sanger sequencing.
Secondary outcomes (1)
- measure
- The Fabry disease specific biomarker candidates finding
- timeFrame
- 24 months
- description
- The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 2 Months
Show eligibility criteria text
INCLUSION CRITERIA: * 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 * High-grade suspicion present, if one or more inclusion criteria are valid: * Positive family anamnesis for Fabry disease * Pin and burning in the hands and feet * Angiokeratomas * Gastrointestinal problems * Heart problems * Kidney problems EXCLUSION CRITERIA: * 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
References
Publications (0)
Data not yet available
No reference posted for this study.