An observational study in Hypomelanotic Macules, Facial Angiofibroma and Shagreen Patches, sponsored by CENTOGENE GmbH Rostock. Terminated at 8 sites in 8 countries. Open to participants aged 2 Years to 50 Years. Per ClinicalTrials.gov, last updated 2023-02-10.
Sponsored by CENTOGENE GmbH Rostock · Observational
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
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.
115 studies on the registry are indexed under Tuberous Sclerosis; 27 are open to participants now.
This study's enrollment of 20 is below the median of 150 across 37 observational studies indexed under Tuberous Sclerosis.
Browse Tuberous Sclerosis studies →CENTOGENE GmbH Rostock is the lead sponsor of 57 studies on the registry; none are open to participants now.
Counted across the registry records on this site, refreshed daily.
Participants with Tuberous Sclerosis Complex (TSC)
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
EXCLUSION CRITERIA
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years.
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.
Time frame: 36 months
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.
Time frame: 36 months
Plan to share: Undecided
Ran from Aug 2018 to primary completion in Dec 2022, 52 months.
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This study is terminated, as verified in Feb 2023. You cannot join it, but the record below documents what was studied.
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