TSC Biosample Repository and Natural History Database

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.

Conditions

• Tuberous Sclerosis
• Lymphangioleiomyomatosis

Interventions

PROCEDURE

Phlebotomy

Participants may elect to submit a blood sample to the Biosample Repository.

PROCEDURE

Buccal (cheek) swab

Participants may elect to submit a buccal swab sample to the Biosample Repository.

GENETIC

Genetic 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.

OTHER

Tissue donation after routine clinical procedure

Participants may elect to submit a tissue sample to the Biosample Repository following a medical procedure.

Sponsors & Collaborators

• National Tuberous Sclerosis Association

  lead OTHER

Principal Investigators

• Steve Roberds, PhD · TSC Alliance

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2016-01-31

Primary Completion

2050-12-31

Completion

2050-12-31

Countries

• United States
• Canada

Study Locations