Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

Terminated

• Conditions: Shagreen Patches; Ungual Fibromas; Cortical Dysplasia; Lymphangioleiomyomatosis; Hypomelanotic Macules; Cardiac Rhabdomyoma; Renal Angiomyolipoma; Facial Angiofibroma; Subependymal Giant Cell Astrocytoma

• Registration Number: NCT02654340
• Lead Sponsor: CENTOGENE GmbH Rostock

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 Timeline

• Study First Submitted: 2015-10-13
• Study First Submitted QC: 2016-01-12
• Study First Posted: 2016-01-13
• Study Start: 2018-08-01
• Primary Completion: 2022-12-30
• Study Completion: 2022-12-30
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-08
• Last Update Posted: 2023-02-10

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of TSC biomarker/s	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 Outcome Measures

Name	Time	Method
Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s	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.

Trial Locations

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; 🇮🇳 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