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Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex (TuScCom) (TuScCom)

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ClinicalTrials.gov Identifier: NCT02654340
Recruitment Status : Recruiting
First Posted : January 13, 2016
Last Update Posted : May 15, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Association of specific mutations (genotype) after sequencing the TSC1 and TSC2 gene with the clinical manifestations (phenotype) of the tuberous sclerosis complex in a cohort of clinically well characterized tuberous sclerosis complex patients. The obtained samples will be used to establish a tandem-MS-based biomarker.

Condition or disease
Sclerosis Tuberosa Cerebral Sclerosis Cardiac Rhabdomyoma Renal Angiomyolipoma

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Epidemiological Study of the Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex - An International, Multicenter, Epidemiological Protocol
Actual Study Start Date : August 1, 2018
Estimated Primary Completion Date : August 30, 2021
Estimated Study Completion Date : August 30, 2021


Group/Cohort
Observation
Patients with tuberous sclerosis complex or high-grade suspicion for tuberous sclerosis complex



Primary Outcome Measures :
  1. Association of specific mutations (genotype) after sequencing the TSC1 and TSC2 gene with the clinical manifestations (phenotype) of the tuberous sclerosis complex in a cohort of clinically well characterized tuberous sclerosis complex patients. [ Time Frame: 36 months ]
    The obtained samples will be used to establish a tandem-MS-based biomarker.


Secondary Outcome Measures :
  1. Classification of the clinical severity of the tuberous sclerosis complex Classification of the severity of accompanying symptoms (cognitive deficits, autism) [ Time Frame: 36 months ]
    As a secondary objective the clinical heterogeneity of tuberous sclerosis as well as the genotype-phenotype correlations will be assessed.


Biospecimen Retention:   Samples With DNA

For the genetic analysis, using the technique of mass-spectrometry, a blood sample will be taken via using the dry blood spot filter card. To prove the correct tuberous sclerosis complex diagnosis in those patients, where up to the enrolment in the study no genetic testing has been done, sequencing of tuberous sclerosis complex genes will be performed. The analyses are done at the

Centogene AG Am Strande 7 18055 Rostock Germany



Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with tuberous sclerosis complex or high-grade suspicion for tuberous sclerosis complex
Criteria

INCLUSION CRITERIA • Informed consent will be obtained from the parents/patients before any study related procedures.

  • Patients of both genders older than 2 years
  • The patient has a diagnosis of tuberous sclerosis complex or a high-grade suspicion for tuberous sclerosis complex

The tuberous sclerosis diagnostic criteria have been developed to aid the diagnosis of tuberous sclerosis and have been adapted from Roach et al 1998

  • definitive TS complex: either 2 major features or 1 major and 2 minor
  • probable TS complex: 1 major and 1 minor
  • possible TS complex: either 1 major or 2 or more minor

Major features:

facial angiofibroma or forehead plaque

non traumatic ungual or periungual fibroma

hypomelanotic macules (3 or more)

shagreen patch

multiple retinal nodular hamartomas

cortical tuber

subependymal nodule

subependymal giant cell astrocytoma

cardiac rhabdomyoma

lymphangiomyomatosis

renal angiomyolipoma

Minor features:

dental pits: multiple and randomly distributed

rectal polyps: hamartomatous

bone cysts

cerebral white matter migration lines

gingival fibromas

non renal hamartoma

retinal achromic patch

confetti' skin lesions

multiple renal cysts

EXCLUSION CRITERIA

  • No Informed consent from the parents/patients before any study related procedures.
  • Patients of both genders younger than 2 years
  • No diagnosis of tuberous sclerosis complex or no valid criteria for profound suspicion of tuberous sclerosis complex

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02654340


Contacts
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Contact: Volha Skrahina, Dr +4938180113594 ext 594 volha.skrahina@centogene.com

Locations
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Egypt
Alexandria Faculty of Medicine - El Khartoum Square - Azarita Recruiting
Alexandria, Egypt
Contact: Tarek Omar, Prof.         
Contact: Marwa Saeed, MD         
Sub-Investigator: Marwa Saeed Abd El- Maksoud, MD         
Principal Investigator: Takek Omar, Prof.         
Georgia
Tbilisi State Medical University Recruiting
Tbilisi, Georgia, 0186
Contact: Tkemaladze, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, MD Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT02654340     History of Changes
Other Study ID Numbers: TSC 08-2018
First Posted: January 13, 2016    Key Record Dates
Last Update Posted: May 15, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Centogene AG Rostock:
Tuberous sclerosis complex
Biomarker

Additional relevant MeSH terms:
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Sclerosis
Tuberous Sclerosis
Angiomyolipoma
Rhabdomyoma
Pathologic Processes
Hamartoma
Neoplasms
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Nervous System Diseases
Neurocutaneous Syndromes
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Neoplasms, Adipose Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Perivascular Epithelioid Cell Neoplasms
Myoma
Neoplasms, Muscle Tissue