Clinical trial · Observational
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol
NCT02654340CI-TRIAL-00063838TuScComterminatedClinicalTrials.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): Study no longer pursued.
Summary
Brief summary (as posted)
International, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s
Conditions
Conditions (9)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cardiac Rhabdomyoma | Cardiac Rhabdomyoma | ONTOLOGY_EXACT | 0.98 |
| Cortical Dysplasia | — | UNRESOLVED | — |
| Facial Angiofibroma | — | UNRESOLVED | — |
| Hypomelanotic Macules | — | UNRESOLVED | — |
| Lymphangioleiomyomatosis | Lymphangioleiomyomatosis | ONTOLOGY_EXACT | 0.98 |
| Renal Angiomyolipoma | Kidney Angiomyolipoma | ALIAS | 0.90 |
| Shagreen Patches | — | UNRESOLVED | — |
| Subependymal Giant Cell Astrocytoma | Subependymal Giant Cell Astrocytoma | ONTOLOGY_EXACT | 0.90 |
| Ungual Fibromas | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (1)
- label
- Participants with Tuberous Sclerosis Complex (TSC)
- description
- Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years.
Primary outcomes (1)
- measure
- Identification of TSC biomarker/s
- timeFrame
- 36 months
- description
- All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
Secondary outcomes (1)
- measure
- Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s
- timeFrame
- 36 months
- description
- Samples will be analyzed for the candidate biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 2 Years
- Maximum age
- 50 Years
Show eligibility criteria text
INCLUSION CRITERIA * Informed consent is obtained from the participant or from the parent / legal guardian * Participant is aged between 2 and 50 years * Diagnosis of TSC is genetically confirmed by CENTOGENE EXCLUSION CRITERIA * Inability to provide informed consent * Participant is younger than 2 or older than 50 years * Diagnosis of TSC is not genetically confirmed by CENTOGENE
References
Publications (0)
Data not yet available
No reference posted for this study.