Clinical Trial: Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Epidemiological Study of the Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex

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.

Detailed Summary:

Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability and autism. However, many people with TSC are living independent, healthy lives and enjoying challenging professions such as doctors, lawyers, educators and researchers. The incidence and severity of the various aspects of TSC can vary widely between individuals even between identical twins. Because TSC can manifest in so many different ways, diagnosis is generally made when physicians identify any two major features of TSC in one individual. One major feature is cardiac rhabdomyoma, an abnormal growth in the heart muscle generally found in young children and sometimes found by ultrasound examination during pregnancy. Other major features include specific abnormal skin growths or skin pigmentation, specific non-malignant tumors or growths such as subependymal nodules or subependymal giant cell astrocytomas (SEGAs) in the brain, lymphangioleiomyomatosis (LAM) in the lungs, angiomyolipomas in the kidney(s), and tubers in the brain or hamartomas in the eye. Also, there are other minor features of TSC that might be diagnostic if found with a major feature in the same person. TSC can also be diagnosed by genetic testing described below. Major advancements in treatments such as these require clinical studies to test the effectiveness of experimental drugs, surgery, or other interventions in people with TSC. Because the TSC community is in vital need of new treatments, individuals with TSC frequently volunteer to participate in cutting-edge clinical studies. Some ongoing clinical studies in TSC include testing the effects of drug treatment on neurocognitive function, testing a new combination d
Sponsor: University of Rostock

Current Primary Outcome: Association of specific mutations after sequencing the TSC1 and TSC2 gene with the clinical manifestations of the tuberous sclerosis complex in cohort of clinically well characterized tuberous sclerosis complex patients. [ Time Frame: 24 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Classification of the clinical severity of the tuberous sclerosis complex Classification of the severity of accompanying symptoms [ Time Frame: 24 months ]

Original Secondary Outcome: Same as current

Information By: University of Rostock

Dates:
Date Received: October 13, 2015
Date Started: March 2015
Date Completion: March 2019
Last Updated: March 24, 2017
Last Verified: March 2017