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Studies in Patients With Tuberous Sclerosis Complex

CompletedN/A

Sponsor: Translational Genomics Research Institute

Conditions: Tuberous Sclerosis Complex

Countries: United States

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.

Eligibility overview

Sex: ALL

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

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.

Locations (1)

Phoenix, Arizona, United States