Biomarkers for Tuberous Sclerosis Complex (BioTuScCom) (TuScCom)

February 8, 2023 updated by: CENTOGENE GmbH Rostock

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

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

Study Overview

Status

Terminated

Conditions

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

Enrollment (Actual)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Albania
      • Tirana, Albania, 10001
        • University Hospital Center Mother Teresa
  • Egypt
      • Alexandria, Egypt, 21131
        • Department of Pediatrics, Alexandria University Children's Hospital
  • Georgia
      • Tbilisi, Georgia, 0177
        • Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University
  • India
    • Kerala
      • Cochin, Kerala, India, 682041
        • Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre
  • Lithuania
      • Vilnius, Lithuania
        • Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos
  • Pakistan
      • Lahore, Pakistan, 54600
        • Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
  • Romania
      • Timişoara, Romania, 300011
        • Emergency Hospital for Children "Louis Turcanu"
  • Sri Lanka
      • Colombo, Sri Lanka, 00800
        • Lady Ridgeway Hospital for Children

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 50 years (ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Participants with Tuberous Sclerosis Complex (TSC)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CENTOGENE GmbH Rostock

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

August 1, 2018

Primary Completion (ACTUAL)

December 30, 2022

Study Completion (ACTUAL)

December 30, 2022

Study Registration Dates

First Submitted

October 13, 2015

First Submitted That Met QC Criteria

January 12, 2016

First Posted (ESTIMATE)

January 13, 2016

Study Record Updates

Last Update Posted (ACTUAL)

February 10, 2023

Last Update Submitted That Met QC Criteria

February 8, 2023

Last Verified

February 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • TSC 08-2018

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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