ClinicalTrials.gov record NCT05676099

TSC Biosample Repository and Natural History Database

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationCanada, United States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A long-term registry that collects and stores blood, tissue, and other samples linked to clinical information from people with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (LAM). Data in the Natural History Database can be retrospective or collected over time. Samples and de-identified clinical data are made available to approved researchers.

What it is studying. This project creates a central bank of biosamples and a linked natural history database to support research into TSC and sporadic LAM, including genetic analyses and other scientific studies.

What the researchers hope to learn. To build a resource of biosamples and linked clinical data that researchers can use to study TSC and sporadic LAM, including genetic analyses and long-term clinical patterns.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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 being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Genetic
  • Genetic Testing
Procedure
  • Phlebotomy
  • Buccal (cheek) swab
Other
  • Tissue donation after routine clinical procedure

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

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

Exclusion criteria

  • -

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants may provide biosamples such as blood (phlebotomy), buccal (cheek) swabs, and optionally tissue donated after routine medical procedures; samples can be collected at clinics, at home, or other approved settings using provided kits and shipped to the biorepository. Clinical information about participants will be entered into the TSC Natural History Database (retrospective and/or prospective data). Some samples may be analyzed for genetic variants (for example by whole genome sequencing); participants whose samples are sequenced may be contacted and given the option to receive TSC1 or TSC2 genetic results and to receive a one-time genetic counseling session free of charge. Stored biosamples and de-identified clinical data may be shared with approved researchers.

How the study is structured. An observational registry and biorepository. Participants may provide blood, cheek swabs, tissue from routine procedures, or other samples at a clinic, at home, at meetings, or via mobile phlebotomy. Samples are sent to a central repository for processing and storage; de-identified clinical data are collected retrospectively and prospectively over time. Researchers may request access to samples and data under oversight; genetic sequencing may be performed and participants who opt in can be offered return of certain TSC1/TSC2 results with a one-time genetic counseling session.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Canada, United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on lymphangioleiomyomatosis

This trial is also listed on this site under tuberous sclerosis complex.

Clinical trials10 trials listed for lymphangioleiomyomatosisEvery trial the registry lists for lymphangioleiomyomatosis, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in lymphangioleiomyomatosis researchLatest monthly update: September 2026. Includes: Pleural fluid drainage. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
January 2016
Primary completion
December 2050 (estimated)
Study completion
December 2050 (estimated)
Target enrollment
5000 participants (estimated)
Last updated on registry
Jun 24, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
National Tuberous Sclerosis Association

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (26)

Terms used on this page · explanations by MedicalUpdates.ai

Natural History
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
biobank
A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials