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Study no longer pursued.
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants with Tuberous Sclerosis Complex (TSC) | Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years. |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. |
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INCLUSION CRITERIA
EXCLUSION CRITERIA
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Participants with Tuberous Sclerosis Complex (TSC)
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| Name | Affiliation | Role |
|---|---|---|
| Peter Bauer, Prof.Dr | Centogene GmbH | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Center Mother Teresa | Tirana | 10001 | Albania | |||
| Department of Pediatrics, Alexandria University Children's Hospital |
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| Label | URL |
|---|---|
| CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients | View source |
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Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)
| 36 months |
| Alexandria |
| 21131 |
| Egypt |
| Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University | Tbilisi | 0177 | Georgia |
| Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre | Kochi | Kerala | 682041 | India |
| Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos | Vilnius | Lithuania |
| Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health | Lahore | 54600 | Pakistan |
| Emergency Hospital for Children "Louis Turcanu" | Timișoara | 300011 | Romania |
| Lady Ridgeway Hospital for Children | Colombo | 00800 | Sri Lanka |
| ID | Term |
|---|---|
| D014402 | Tuberous Sclerosis |
| D054220 | Malformations of Cortical Development |
| D018192 | Lymphangioleiomyomatosis |
| D018207 | Angiomyolipoma |
| D001254 | Astrocytoma |
| ID | Term |
|---|---|
| D006222 | Hamartoma |
| D009369 | Neoplasms |
| D009378 | Neoplasms, Multiple Primary |
| D009386 | Neoplastic Syndromes, Hereditary |
| D065703 | Malformations of Cortical Development, Group I |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020752 | Neurocutaneous Syndromes |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D008203 | Lymphangiomyoma |
| D018190 | Neoplasm, Lymphatic Tissue |
| D009370 | Neoplasms by Histologic Type |
| D054973 | Perivascular Epithelioid Cell Neoplasms |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D008232 | Lymphoproliferative Disorders |
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D007160 | Immunoproliferative Disorders |
| D007154 | Immune System Diseases |
| D018205 | Neoplasms, Adipose Tissue |
| D005910 | Glioma |
| D018302 | Neoplasms, Neuroepithelial |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009380 | Neoplasms, Nerve Tissue |
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