Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

Sponsor

CENTOGENE GmbH Rostock (Industry)

Overall Status

Active, not recruiting

CT.gov ID

NCT02654340

Collaborator

(none)

1,000

Enrollment

Locations

Anticipated Duration (Months)

125

Patients Per Site

1.9

Patients Per Site Per Month

Study Details

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

Condition or Disease	Intervention/Treatment	Phase
Hypomelanotic Macules Facial Angiofibroma Shagreen Patches Ungual Fibromas Cortical Dysplasia Cardiac Rhabdomyoma Lymphangioleiomyomatosis Renal Angiomyolipoma Subependymal Giant Cell Astrocytoma

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 Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Aug 1, 2018

Anticipated Primary Completion Date :

Dec 30, 2023

Anticipated Study Completion Date :

Dec 30, 2023

Arms and Interventions

Arm	Intervention/Treatment
Participants with Tuberous Sclerosis Complex (TSC) Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years.

Outcome Measures

Primary Outcome Measures

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

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Years to 50 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

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