Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

CENTOGENE

Status: Terminated

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

Study type: Observational

Funder types: Industry

Identifiers

NCT02654340

TSC 08-2018

Details and patient eligibility

About

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

Full 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.

Enrollment: 20 patients

Sex: All

Ages: 2 to 50 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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

Trial design

20 participants in 1 patient group

Participants with Tuberous Sclerosis Complex (TSC)

Description:

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