Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

Lymphangioleiomyomatosis Clinical Trial

— TuScCom  

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02654340
• Other study ID #: TSC 08-2018
• Status: Terminated
• Start date: August 1, 2018
• Est. completion date: December 30, 2022

Study information

• Verified date: February 2023
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 20
• Est. completion date: December 30, 2022
• Est. primary completion date: December 30, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years to 50 Years

Eligibility

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

Related Conditions & MeSH terms

• Angiofibroma
• Angiomyolipoma
• Astrocytoma
• Cardiac Rhabdomyoma
• Cortical Dysplasia
• Facial Angiofibroma
• Fibroma
• Hypomelanotic Macules
• Lymphangioleiomyomatosis
• Renal Angiomyolipoma
• Sclerosis
• Shagreen Patches
• Subependymal Giant Cell Astrocytoma
• Tuberous Sclerosis
• Ungual Fibromas

Locations

Country	Name	City	State
Albania	University Hospital Center Mother Teresa	Tirana
Egypt	Department of Pediatrics, Alexandria University Children's Hospital	Alexandria
Georgia	Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University	Tbilisi
India	Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre	Cochin	Kerala
Lithuania	Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos	Vilnius
Pakistan	Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health	Lahore
Romania	Emergency Hospital for Children "Louis Turcanu"	Timisoara
Sri Lanka	Lady Ridgeway Hospital for Children	Colombo

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

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

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of TSC biomarker/s	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.	36 months
Secondary	Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s	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.	36 months

External Links

•   CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients