Spots Global Cancer Trial Database for Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
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Trial Identification
Brief Title: Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
Official Title: Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol
Study ID: NCT02654340
Interventions
Study Description
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.
Eligibility
Minimum Age: 2 Years
Eligible Ages: CHILD, ADULT
Sex: ALL
Healthy Volunteers: No
Locations
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, Cochin, 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", Timişoara, , Romania
Lady Ridgeway Hospital for Children, Colombo, , Sri Lanka
Contact Details
Name: Peter Bauer, Prof.Dr
Affiliation: Centogene GmbH
Role: STUDY_CHAIR
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