TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database
National Tuberous Sclerosis Association
Summary
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database. The TSC Natural History Database captures clinical data to document the impact of the disease on a person's health over his or her lifetime. This data may be collected retrospectively or prospectively.
Description
The purpose of the project which is sponsored by the TSC Alliance is to learn more about tuberous sclerosis complex (TSC) which may lead to new treatments for conditions that affect different areas of the body such as the brain, kidney, heart, lungs, and skin. The TSC Alliance TSC Biosample Repository (BSR) was established to provide a central biobank at the Van Andel Institute (VAI) Biorepository in Grand Rapids, Michigan for the collection of blood, tissues, and cells from a vast number of individuals with TSC. The TSC Alliance Natural History Database (NHD), established in 2006, will serve…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis (sporadic LAM). Exclusion Criteria: \-
Interventions
- ProcedurePhlebotomy
Participants may elect to submit a blood sample to the Biosample Repository.
- ProcedureBuccal (cheek) swab
Participants may elect to submit a buccal swab sample to the Biosample Repository.
- GeneticGenetic Testing
Biosamples may be processed and analyzed for genetic variants using whole genome sequencing (WGS) or other sequencing methods. Participants whose samples are processed in this manner may be contacted and provided the option to receive TSC1 or TSC2 genetic variant results by opting in using Consent to Return of Genetic Results Form. Participants will be offered a one-time genetic counseling session to review their results, free of charge. CLIA-certified, TSC1 or TSC2 genetic variant results will be returned to participants who opt in to receive such results. Additionally, negative results and results not able to be clinically certified will also be offered to participants with a one-time genetic counseling session to review their results, free of charge using the Return of Genetic Research Results Template Letter. CSS will be responsible for informing clinic participants that their samples have been sequenced and offer to connect participant to the TSC Alliance for further information.
- OtherTissue donation after routine clinical procedure
Participants may elect to submit a tissue sample to the Biosample Repository following a medical procedure.
Locations (26)
- University of Alabama BirminghamBirmingham, Alabama
- Loma Linda University Children's HospitalLoma Linda, California
- University of California Los AngelesLos Angeles, California
- Jack & Julia Center for TSC, Oakland Children's Hospital and Research CenterOakland, California
- The Children's HospitalDenver, Colorado
- Nicklaus Children's HospitalMiami, Florida