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TSC Biosample Repository and Natural History Database
NCT05676099 · National Tuberous Sclerosis Association
In plain English
Click the button to translate this study into plain language — what it is, who qualifies, and what participation looks like.
Official title
TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database
About this study
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.
Eligibility criteria
Inclusion Criteria:
* Diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis (sporadic LAM).
Exclusion Criteria:
\-
Study design
Enrollment target: 5000 participants
Age groups: child, adult, older_adult
Timeline
Starts: 2016-01
Estimated completion: 2050-12
Last updated: 2025-07-08
Interventions
Procedure: PhlebotomyProcedure: Buccal (cheek) swabGenetic: Genetic TestingOther: Tissue donation after routine clinical procedure
Primary outcomes
- • Natural History data and biosamples including blood, tissue, or other types of biological samples from individuals with TSC (Average 15 years)
Sponsor
National Tuberous Sclerosis Association · other
Contacts & investigators
ContactElizabeth Cassidy, MPH · contact · ecassidy@tscalliance.org · 301-562-9890
ContactAyat Abi · contact · aabi@tscalliance.org
InvestigatorSteve Roberds, PhD · principal_investigator, TSC Alliance
All locations (24)
University of Alabama BirminghamRecruiting
Birmingham, Alabama, United States
Loma Linda University Children's HospitalActive Not Recruiting
Loma Linda, California, United States
University of California Los AngelesRecruiting
Los Angeles, California, United States
Jack & Julia Center for TSC, Oakland Children's Hospital and Research CenterSuspended
Oakland, California, United States
The Children's HospitalActive Not Recruiting
Denver, Colorado, United States
Nicklaus Children's HospitalRecruiting
Miami, Florida, United States
Chicago Comer Children's Hospital Neurogenetic Clinic, University of ChicagoActive Not Recruiting
Chicago, Illinois, United States
University of Iowa Hospitals and ClinicsRecruiting
Iowa City, Iowa, United States
TSC AllianceRecruiting
Silver Spring, Maryland, United States
Boston Children's HospitalRecruiting
Boston, Massachusetts, United States
Massachusetts General HospitalRecruiting
Boston, Massachusetts, United States
Minnesota Epilepsy GroupRecruiting
Roseville, Minnesota, United States
Washington University in St. LouisRecruiting
St Louis, Missouri, United States
New York University Medical CenterRecruiting
New York, New York, United States
Cincinnati Children's Hospital Medical CenterRecruiting
Cincinnati, Ohio, United States
Cleveland Clinic FoundationRecruiting
Cleveland, Ohio, United States
University of Pennsylvania Medical CenterActive Not Recruiting
Philadelphia, Pennsylvania, United States
Le Bonheur Children's HospitalRecruiting
Memphis, Tennessee, United States
Scottish Rite Hospital for ChildrenRecruiting
Dallas, Texas, United States
Texas Childrens Hospital Baylor College of MedicineRecruiting
Houston, Texas, United States
Memorial Hermann-Texas Medical Center (University of Texas Houston)Recruiting
Houston, Texas, United States
Children's National Medical CenterRecruiting
Fairfax, Virginia, United States
Centre Hospitalier de L'Université de Montréal (Chum)Recruiting
Montreal, Canada
Sainte-Justine Université de MontréalRecruiting
Montreal, Canada