CompletedNot Applicable

Studies in Patients With Tuberous Sclerosis Complex

United States32 participantsStarted 2016-05-01

Plain-language 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 parent, child and unaffected siblings) and sporadic TSC.

Who can participate

SexALL

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Inclusion Criteria: * 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 Criteria: * Individuals that are 18 years or older that lack the capacity to consent for themselves.

What they're measuring

Next Generation Sequencing to Measure Phenotypic Variability

Timeframe: Up to 4 Years

Trial details

NCT IDNCT03276195

SponsorTranslational Genomics Research Institute

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2023-11-27

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