NCT02654340

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

Trial Health

63
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Aug 2018

Longer than P75 for all trials

Geographic Reach
8 countries

8 active sites

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 13, 2015

Completed
3 months until next milestone

First Posted

Study publicly available on registry

January 13, 2016

Completed
2.6 years until next milestone

Study Start

First participant enrolled

August 1, 2018

Completed
4.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 30, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 30, 2022

Completed
Last Updated

February 10, 2023

Status Verified

February 1, 2023

Enrollment Period

4.4 years

First QC Date

October 13, 2015

Last Update Submit

February 8, 2023

Conditions

Hypomelanotic MaculesFacial AngiofibromaShagreen PatchesUngual FibromasCortical DysplasiaCardiac RhabdomyomaLymphangioleiomyomatosisRenal AngiomyolipomaSubependymal Giant Cell Astrocytoma

Keywords

Tuberous sclerosis complexBiomarker

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (1)

  • Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s

    36 months

Study Arms (1)

Participants with Tuberous Sclerosis Complex (TSC)

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

Eligibility Criteria

Age2 Years - 50 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodProbability Sample
Study Population

Participants with Tuberous Sclerosis Complex (TSC)

You may qualify if:

  • 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

You may not qualify if:

  • Inability to provide informed consent
  • Participant is younger than 2 or older than 50 years
  • Diagnosis of TSC is not genetically confirmed by CENTOGENE

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (8)

University Hospital Center Mother Teresa

Tirana, 10001, Albania

Location

Department of Pediatrics, Alexandria University Children's Hospital

Alexandria, 21131, Egypt

Location

Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University

Tbilisi, 0177, Georgia

Location

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

Kochi, Kerala, 682041, India

Location

Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos

Vilnius, Lithuania

Location

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

Lahore, 54600, Pakistan

Location

Emergency Hospital for Children "Louis Turcanu"

Timișoara, 300011, Romania

Location

Lady Ridgeway Hospital for Children

Colombo, 00800, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Tuberous SclerosisMalformations of Cortical DevelopmentLymphangioleiomyomatosisAngiomyolipomaAstrocytoma

Condition Hierarchy (Ancestors)

HamartomaNeoplasmsNeoplasms, Multiple PrimaryNeoplastic Syndromes, HereditaryMalformations of Cortical Development, Group INervous System MalformationsNervous System DiseasesNeurocutaneous SyndromesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornLymphangiomyomaNeoplasm, Lymphatic TissueNeoplasms by Histologic TypePerivascular Epithelioid Cell NeoplasmsNeoplasms, Connective and Soft TissueLymphoproliferative DisordersLymphatic DiseasesHemic and Lymphatic DiseasesImmunoproliferative DisordersImmune System DiseasesNeoplasms, Adipose TissueGliomaNeoplasms, NeuroepithelialNeuroectodermal TumorsNeoplasms, Germ Cell and EmbryonalNeoplasms, Glandular and EpithelialNeoplasms, Nerve Tissue

Study Officials

  • Peter Bauer, Prof.Dr

    Centogene GmbH

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 13, 2015

First Posted

January 13, 2016

Study Start

August 1, 2018

Primary Completion

December 30, 2022

Study Completion

December 30, 2022

Last Updated

February 10, 2023

Record last verified: 2023-02

Locations

AL(1)LI(1)IN(1)RO(1)EG(1)GE(1)SR(1)PA(1)