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Tuberous Sclerosis Complex

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Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years.

Peter Bauer, Prof.Dr

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

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.

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

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

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.

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.

CENTOGENE GmbH Rostock

Study title	NCT ID	Conditions	Eligibility	Organization
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)	NCT02654340	Hypomelanotic M... Facial Angiofib... Shagreen Patche... Ungual Fibromas Cortical Dyspla... Cardiac Rhabdom... Lymphangioleiom... Renal Angiomyol... Subependymal Gi...	2 Years - 50 Years	CENTOGENE GmbH Rostock
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)	NCT02654340	Hypomelanotic M... Facial Angiofib... Shagreen Patche... Ungual Fibromas Cortical Dyspla... Cardiac Rhabdom... Lymphangioleiom... Renal Angiomyol... Subependymal Gi...	2 Years - 50 Years	CENTOGENE GmbH Rostock
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)	NCT02654340	Hypomelanotic M... Facial Angiofib... Shagreen Patche... Ungual Fibromas Cortical Dyspla... Cardiac Rhabdom... Lymphangioleiom... Renal Angiomyol... Subependymal Gi...	2 Years - 50 Years	CENTOGENE GmbH Rostock

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