Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

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

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02654340

Acronym

TuScCom

Enrollment

Registered

2016-01-13

Start date

2018-08-01

Completion date

2022-12-30

Last updated

2023-02-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Keywords

Tuberous sclerosis complex, Biomarker

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Years to 50 Years

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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.

Countries

Albania, Egypt, Georgia, India, Lithuania, Pakistan, Romania, Sri Lanka

Outcome results