Status:
COMPLETED
Studies in Patients With Tuberous Sclerosis Complex
Lead Sponsor:
Translational Genomics Research Institute
Collaborating Sponsors:
United States Department of Defense
Conditions:
Tuberous Sclerosis Complex
Eligibility:
All Genders
Brief Summary
This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected par...
Detailed Description
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder, caused by heterozygous mutations in at least two different genes, TSC1, and TSC2. It is estimated to affect 1 in 6000, ...
Eligibility Criteria
Inclusion
- Diagnosis of familial TSC or sporadic TSC, or a biological relative of a person diagnosed with such a disorder.
- Willingness and ability to donate biospecimens to TGen for the purpose of propelling research. The minimum biospecimen donation capability is saliva and/or cheek swab. In most cases, blood or other tissue (skin biopsy) may be the ideal sample for study.
Exclusion
- Individuals that are 18 years or older that lack the capacity to consent for themselves.
Key Trial Info
Start Date :
May 1 2016
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 27 2023
Estimated Enrollment :
32 Patients enrolled
Trial Details
Trial ID
NCT03276195
Start Date
May 1 2016
End Date
November 27 2023
Last Update
November 29 2023
Active Locations (1)
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1
Translational Genomics Research Institute (TGen)
Phoenix, Arizona, United States, 85004