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TSC Biosample Repository and Natural History Database

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ClinicalTrials.gov Identifier: NCT05676099
Recruitment Status : Recruiting
First Posted : January 9, 2023
Last Update Posted : February 9, 2024
Sponsor:
Information provided by (Responsible Party):
National Tuberous Sclerosis Association

Tracking Information
First Submitted Date December 21, 2022
First Posted Date January 9, 2023
Last Update Posted Date February 9, 2024
Actual Study Start Date January 2016
Estimated Primary Completion Date December 2050   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 6, 2023)		 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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title TSC Biosample Repository and Natural History Database
Official Title TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database
Brief 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.
Detailed 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 as the central repository of de-identified clinical data associated with biosamples collected from individuals with TSC. The NHD research project involves collection of retrospective and prospective private information on individuals with a diagnosis of TSC over their lifespan (i.e., a longitudinal study). The VAI Biorepository will distribute biosamples and NHD data to researchers as approved by the TSC Alliance.

This project also aims to collect biosamples and clinical data on people affected by sporadic lymphangioleiomyomatosis (sporadic LAM). LAM is a common symptom reported in TSC that may occur outside the context of a TSC diagnosis (i.e., sporadic LAM patients).

The collection of biosamples will be at a clinical study site (CSS) such as a TSC Alliance recognized TSC clinic, a non-CSS such as a participant's home, an educational meeting, or by other clinical partners (CP) with institutional review board (IRB) approval of this protocol and informed consent forms. Collection of biosamples may also occur at a non-CSS or by a licensed phlebotomist (e.g., via partnership with mobile phlebotomy companies). The VAI Biorepository will provide collection kits, instructions, and materials to the CSS, non-CSS, CP, or directly to participant.

The CSS, CP, non-CSS, or authorized representative will ship collected biosamples to the VAI Biorepository for processing and storage according to their IRB-approved standard operating procedures. The VAI Biorepository will distribute biosamples to investigators as approved by the TSC Alliance. Their accreditation under the Biorepository Accreditation Program of the College of American Pathologists (CAP) will stand as the governing rules for best practices. Distribution of biosamples will require receipt of the investigator's IRB approval and a material transfer agreement (MTA) executed between the approved investigator and the TSC Alliance.

Clinical data in the NHD associated with a biosample will be provided to an investigator as approved by the Natural History Database-Biosample Repository (NHD-BSR) Steering Committee.

This project is open to individuals of all ages with a diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis.
Study Type Observational [Patient Registry]
Study Design Observational Model: Other
Time Perspective: Other
Target Follow-Up Duration 50 Years
Biospecimen 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.

Blood 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.
Sampling Method Non-Probability Sample
Study Population An individual must have a diagnosis of tuberous sclerosis complex, based on the current clinical and genetic diagnostic criteria. The individual may enroll if they have a diagnosis of sporadic LAM. All persons with tuberous sclerosis complex are eligible to participate, such as individuals with limited decisional capacity.
Condition
  • Tuberous Sclerosis
  • Lymphangioleiomyomatosis
Intervention
  • 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.
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 6, 2023)		 5000
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2050
Estimated Primary Completion Date December 2050   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis (sporadic LAM).

Exclusion Criteria:

-
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Elizabeth Cassidy, MPH 301-562-9890 ecassidy@tscalliance.org
Listed Location Countries Canada,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT05676099
Other Study ID Numbers 15039
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Current Responsible Party National Tuberous Sclerosis Association
Original Responsible Party Same as current
Current Study Sponsor National Tuberous Sclerosis Association
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators Not Provided
PRS Account National Tuberous Sclerosis Association
Verification Date February 2024