Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

Study Purpose

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

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.

An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.

Searching Both is inclusive of interventional and observational studies.

Eligible Ages 2 Years - 50 Years
Gender All
More Inclusion & Exclusion 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.
  • - Inability to provide informed consent.
  • - Participant is younger than 2 or older than 50 years.
- Diagnosis of TSC is not genetically confirmed by CENTOGENE

Trial Details

Trial ID:

This trial id was obtained from, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.


Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Peter Bauer, Prof.Dr
Principal Investigator Affiliation Centogene GmbH
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Overall Status Recruiting
Countries Albania, Egypt, Georgia, India, Lithuania, Pakistan, Romania, Sri Lanka

The disease, disorder, syndrome, illness, or injury that is being studied.

Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches, Ungual Fibromas, Cortical Dysplasia, Cardiac Rhabdomyoma, Lymphangioleiomyomatosis, Renal Angiomyolipoma, Subependymal Giant Cell Astrocytoma
Study Website: View Trial Website
Additional Details

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.

Arms & Interventions


: Participants with Tuberous Sclerosis Complex (TSC)

Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years.


Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

International Sites

University Hospital Center Mother Teresa, Tirana, Albania




University Hospital Center Mother Teresa

Tirana, , 10001

Site Contact

Paskal Cullufi, MD

+35 5672043840

Alexandria, Egypt




Department of Pediatrics, Alexandria University Children's Hospital

Alexandria, , 21131

Site Contact

Tarek Elsayed Omar, MD

+20 2035826512

Tbilisi, Georgia




Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University

Tbilisi, , 0177

Site Contact

Tinatin Tkemaladze, MD

+995 032917304

Cochin, Kerala, India




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

Cochin, Kerala, 682041

Site Contact

Sheela Nampoothiri, MD

+91 484 2851234

Vilnius, Lithuania




Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos

Vilnius, ,

Site Contact

Rimante Cerkauskiene, MD


Lahore, Pakistan




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

Lahore, , 54600

Site Contact

Huma Cheema, MD

+92 3009447550

Timişoara, Romania




Emergency Hospital for Children "Louis Turcanu"

Timişoara, , 300011

Site Contact

Adela Chirita, MD

+40 724369599

Lady Ridgeway Hospital for Children, Colombo, Sri Lanka




Lady Ridgeway Hospital for Children

Colombo, , 00800

Site Contact

Eresha Jasinge, MD

+94112693711 #314/315

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