NCT05676099 · National Tuberous Sclerosis Association
TSC Biosample Repository and Natural History Database
What this study is about
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.
View original scientific description
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.
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.
Primary outcome measures
Natural History data and biosamples including blood, tissue, or other types of biological samples from individuals with TSC
Time frame: Average 15 years
The purposes of this project are to: * Collect biosamples such as blood, tissue, fluid, or other types of bodily samples from people with TSC. * Collect information about people with TSC over their lifetime.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis (sporadic LAM).
Where
- Birmingham, Alabama
- Loma Linda, California
- Los Angeles, California
- Oakland, California
- Denver, Colorado
- Miami, Florida
- Chicago, Illinois
- Iowa City, Iowa
- Silver Spring, Maryland
- Boston, Massachusetts
- Roseville, Minnesota
- Kansas City, Missouri
And 10 more locations — see the full list below.
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jun 24, 2026 · Source of record for eligibility and locations