TSC Biosample Repository and Natural History Database

May 27, 2026 updated by: National Tuberous Sclerosis Association

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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

Enrollment (Estimated)

5000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
      • Montreal, Canada
        • Recruiting
        • Centre Hospitalier de l'Universite de Montreal
        • Principal Investigator:
          • Mark Keezer, MDMC, PhD
        • Contact:
      • Montreal, Canada
  • United States
    • Alabama
      • Birmingham, Alabama, United States
        • Recruiting
        • University of Alabama Birmingham
        • Contact:
        • Principal Investigator:
          • Martina Bebin, M.D., M.P.A.
    • California
      • Loma Linda, California, United States
        • Recruiting
        • Loma Linda University Children's Hospital
        • Contact:
        • Principal Investigator:
          • David Young, MD
      • Los Angeles, California, United States, 90095
      • Oakland, California, United States
        • Completed
        • Jack & Julia Center for TSC, Oakland Children's Hospital and Research Center
    • Colorado
    • Florida
      • Miami, Florida, United States
        • Recruiting
        • Nicklaus Children's Hospital
        • Principal Investigator:
          • Paula Schleifer, MD
        • Contact:
    • Illinois
      • Chicago, Illinois, United States
        • Recruiting
        • Chicago Comer Children's Hospital Neurogenetic Clinic, University of Chicago
        • Principal Investigator:
          • James Tonsgard, MD
        • Contact:
    • Iowa
      • Iowa City, Iowa, United States
    • Maryland
      • Silver Spring, Maryland, United States, 20910
    • Massachusetts
      • Boston, Massachusetts, United States
        • Recruiting
        • Boston Children's Hospital
        • Principal Investigator:
          • Mustafa Sahin, MD, PhD
        • Contact:
      • Boston, Massachusetts, United States
        • Recruiting
        • Massachusetts General Hospital
        • Principal Investigator:
          • Elizabeth Thiele, MD, PhD
        • Contact:
    • Minnesota
      • Roseville, Minnesota, United States
        • Recruiting
        • Minnesota Epilepsy Group
        • Contact:
        • Contact:
        • Principal Investigator:
          • Douglas Smith, MD
    • Missouri
      • Kansas City, Missouri, United States, 64108
        • Recruiting
        • Children's Mercy Research Institute
        • Contact:
        • Principal Investigator:
          • Mirza Waseem Baig, MD
      • St Louis, Missouri, United States, 63110
        • Recruiting
        • Washington University in St. Louis
        • Principal Investigator:
          • Michael Wong, MD, PhD
        • Contact:
    • New York
    • Ohio
      • Cincinnati, Ohio, United States
        • Recruiting
        • Cincinnati Children's Hospital Medical Center
        • Principal Investigator:
          • Darcy Kreuger, MD, PhD
        • Contact:
      • Cleveland, Ohio, United States
        • Recruiting
        • Cleveland Clinic Foundation
        • Contact:
        • Principal Investigator:
          • Ajay Gupta, MD
        • Contact:
    • Pennsylvania
    • Tennessee
      • Memphis, Tennessee, United States
        • Recruiting
        • Le Bonheur Children's Hospital
        • Contact:
        • Principal Investigator:
          • Sarah Weatherspoon, MD
    • Texas
      • Dallas, Texas, United States
        • Recruiting
        • Scottish Rite Hospital for Children
        • Contact:
        • Principal Investigator:
          • Ashley Hackett, MD
      • Houston, Texas, United States
        • Recruiting
        • Memorial Hermann-Texas Medical Center (University of Texas Houston)
        • Principal Investigator:
          • Hope Northrup, MD
        • Contact:
      • Houston, Texas, United States, 77030
        • Recruiting
        • Texas Childrens Hospital Baylor College of Medicine
        • Contact:
        • Principal Investigator:
          • Howard Weiner, MD
    • Virginia
      • Fairfax, Virginia, United States
        • Recruiting
        • Children's National Medical Center
        • Contact:
        • Principal Investigator:
          • William McClintock, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

-

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Average 15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Tuberous Sclerosis Association

Investigators

  • Principal Investigator: Steve Roberds, PhD, TSC Alliance

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2016

Primary Completion (Estimated)

December 1, 2050

Study Completion (Estimated)

December 1, 2050

Study Registration Dates

First Submitted

December 21, 2022

First Submitted That Met QC Criteria

January 6, 2023

First Posted (Actual)

January 9, 2023

Study Record Updates

Last Update Posted (Actual)

May 29, 2026

Last Update Submitted That Met QC Criteria

May 27, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 15039

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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