Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex (TuScCom)

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Brief Title

Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

Official Title

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

Brief Summary

      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

      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.
    


Study Type

Observational


Primary Outcome

Identification of TSC biomarker/s

Secondary Outcome

 Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s

Condition

Hypomelanotic Macules


Study Arms / Comparison Groups

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

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

1000

Start Date

August 1, 2018

Completion Date

December 30, 2023

Primary Completion Date

December 30, 2023

Eligibility Criteria

        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

All

Ages

2 Years - 50 Years

Accepts Healthy Volunteers

No

Contacts

Peter Bauer, Prof.Dr, , 

Location Countries

Albania

Location Countries

Albania

Administrative Informations


NCT ID

NCT02654340

Organization ID

TSC 08-2018


Responsible Party

Sponsor

Study Sponsor

CENTOGENE GmbH Rostock


Study Sponsor

Peter Bauer, Prof.Dr, Study Chair, Centogene GmbH


Verification Date

May 2021