Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

Overview

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

Full Title of Study: “Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 30, 2022

Detailed Description

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.

Arms, Groups and Cohorts

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

Clinical Trial Outcome Measures

Primary Measures

  • Identification of TSC biomarker/s
    • Time Frame: 36 months
    • 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 Measures

  • Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s
    • Time Frame: 36 months
    • 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.

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 2 Years

Maximum Age: 50 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • CENTOGENE GmbH Rostock
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Peter Bauer, Prof.Dr, Study Chair, Centogene GmbH

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