Clinical trial

TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database

Name

15039

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.

Trial arms

Trial start

2016-01-01

Estimated PCD

2050-12-01

Trial end

2050-12-01

Status

Recruiting

Treatment

Phlebotomy

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

Buccal (cheek) swab

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

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.

Tissue donation after routine clinical procedure

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

Size

5000

Primary endpoint

Natural History data and biosamples including blood, tissue, or other types of biological samples from individuals with TSC

Average 15 years

Eligibility criteria

Inclusion Criteria: * Diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis (sporadic LAM). Exclusion Criteria: -

Protocol

{'studyType': 'OBSERVATIONAL', 'patientRegistry': True, 'targetDuration': '50 Years', 'designInfo': {'observationalModel': 'OTHER', 'timePerspective': 'OTHER'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Biological materials will be collected at different timepoints in conjunction with procedures that are done for clinical reasons or when consent is given to collect the sample expressly for this research study. Historical cord blood, dried blood spot or placental tissue samples may be collected. Postmortem organ tissue may be collected with consent from the parent/legal guardian of the deceased person with TSC who was enrolled in this protocol or from whom medical records are available to enter relevant clinical data in the NHD.\n\nBlood spots may be collected using at-home commercial devices shipped to participants or at CSS using available resources. Blood spots may be created when blood samples arrive at VAI. Biosamples may be processed and analyzed for genetic variants using whole genome sequencing (WGS) or other sequencing methods.'}, 'enrollmentInfo': {'count': 5000, 'type': 'ESTIMATED'}}

Updated at

2024-02-09

1 organization

1 product

2 indications

Organization

National Tuberous Sclerosis Association

Product

Genetic Testing

Indication

Tuberous Sclerosis

Indication

Lymphangioleiomyomatosis