Clinical trial NCT02654340: Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
Official title: Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Hypomelanotic Macules
Facial Angiofibroma
Shagreen Patches
Ungual Fibromas
Cortical Dysplasia
Cardiac Rhabdomyoma
Lymphangioleiomyomatosis
Renal Angiomyolipoma
Subependymal Giant Cell Astrocytoma
Keywords: Tuberous sclerosis complex
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2016-01-13
Enrollment: 20
Sex: ALL
Minimum age (years): 2
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants with Tuberous Sclerosis Complex (TSC)

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 criteria: 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

Primary outcomes:
measure: Identification of TSC biomarker/s
timeFrame: 36 months
Secondary outcomes:
measure: Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s
timeFrame: 36 months
Other outcomes:
Locations:
city: Tirana
country: Albania
facility: University Hospital Center Mother Teresa
city: Alexandria
country: Egypt
facility: Department of Pediatrics, Alexandria University Children's Hospital
city: Tbilisi
country: Georgia
facility: Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University
city: Cochin
country: India
facility: Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre
state: Kerala
city: Vilnius
country: Lithuania
facility: Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos
city: Lahore
country: Pakistan
facility: Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
city: Timişoara
country: Romania
facility: Emergency Hospital for Children "Louis Turcanu"
city: Colombo
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof.Dr
role: STUDY_CHAIR
References: