TSC Biosample Repository and Natural History Database

Conditions

• Lymphangioleiomyomatosis
• Tuberous Sclerosis

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

• Phlebotomy — PROCEDURE
  Participants may elect to submit a blood sample to the Biosample Repository.
• Buccal (cheek) swab — PROCEDURE
  Participants may elect to submit a buccal swab sample to the Biosample Repository.
• Genetic Testing — GENETIC
  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.
• Tissue donation after routine clinical procedure — OTHER
  Participants may elect to submit a tissue sample to the Biosample Repository following a medical procedure.

Study Details

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.

Key Dates

Start date

Jan 31, 2016

Status verified

May 2026

Primary completion

Dec 31, 2050

Completion

Dec 31, 2050

Study Design

Enrollment

5,000 participants (estimated)

Primary Outcome Measure

Natural History data and biosamples including blood, tissue, or other types of biological samples from individuals with TSC [ Time Frame: Average 15 years ]

Central Contacts

• Elizabeth Cassidy, MPH
  301-562-9890
  [email protected]
• Ayat Abi
  [email protected]

Locations (24)

Find similar trials in Birmingham, AL

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