Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

CENTOGENE GmbH Rostock20 enrolled

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

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

Conditions

Hypomelanotic Macules Facial Angiofibroma Shagreen Patches Ungual Fibromas

Eligibility

Sex: ALLMin age: 2 YearsMax age: 50 Years

Medical Language ↔ Plain English

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

Locations (8)

University Hospital Center Mother Teresa

Tirana, Albania

Department of Pediatrics, Alexandria University Children's Hospital

Alexandria, Egypt

Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University

Tbilisi, Georgia

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, India

Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos

Vilnius, Lithuania

Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health

Lahore, Pakistan

Emergency Hospital for Children "Louis Turcanu"

Timișoara, Romania

Lady Ridgeway Hospital for Children

Colombo, Sri Lanka

Outcomes

Primary Outcomes

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.

Time frame: 36 months

Secondary Outcomes

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.

Time frame: 36 months