Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

Study Overview
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Brief Summary
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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

Detailed Description
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Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder characterized by the growth of numerous tumors in different body parts related to dysregulation of the mechanistic target of rapamycin (mTOR) pathway. The overall incidence of TSC is estimated to be as high as 1 in 6000 to 10,000 live birth.The main aspects of TSC that influence the quality of life are associated with the brain: seizures, evelopmental delay, intellectual disability, and autism. However, the incidence and severity of the various aspects of TSC can vary widely. TSC is generally caused by pathogenic variants in the tumor suppressor genes: TSC1 and TSC2. Confirmation of a clinical diagnosis of tuberous sclerosis is performed via TSC1 and TSC2 sequencing. There is no cure for TSC, therefore symptomatic therapy is the best possible choice, including mTOR inhibitors, vigabatrin and other antiepileptic drugs for the seizures, and neurosurgery in cases of life-threatening neurological symptoms. The aim of the study is established TSC specific biomarker/s. Such biomarkers aim to facilitate the diagnosis, treatment personalization and monitoring.

Official Title
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Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol

Conditions
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Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches, Ungual Fibromas, Cortical Dysplasia, Cardiac Rhabdomyoma, Lymphangioleiomyomatosis, Renal Angiomyolipoma, Subependymal Giant Cell Astrocytoma

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 2 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants with Tuberous Sclerosis Complex (TSC)<br>Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of TSC biomarker/s | 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. | 36 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s | 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. | 36 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Tuberous sclerosis complex, Biomarker