AzTrials
AzTrials

Tuberous SclerosisNCT05676099

TSC Biosample Repository and Natural History Database

An observational study of Tuberous Sclerosis and Lymphangioleiomyomatosis, run by National Tuberous Sclerosis Association at 26 sites in 2 countries.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
Search all trials

Trial 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. Read more about this study

Who is it for?
Any age
Conditions the study is for
Tuberous Sclerosis, Lymphangioleiomyomatosis
What is being tested?
Phlebotomy, Buccal (cheek) swab and Genetic Testing
Type of treatment
Surgery or procedure
How many people
5,000 participants
Where
26 sitesin 2 countries
Study dates
Jan 2016to Dec 2050
How long will I take part?
50 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

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.

Who may be able to join

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

Who cannot join

  • -

Trial locations and contacts

26 sites in 2 countries. Contact the study team or a site near you to ask about taking part.

Elizabeth Cassidy, MPH contact

301-562-9890

ecassidy@tscalliance.org

Ayat Abi contact

aabi@tscalliance.org

26 sites in 2 countries

United States24 sites, 23 recruiting

  • University of Alabama Birmingham

    Birmingham, Alabama

    Jessica Krefting, RN, BSN, 205-975-2890, jessicakrefting@uabmc.edu

    Martina Bebin, M.D., M.P.A.

    Recruiting

  • Boston Children's Hospital

    Boston, Massachusetts

    Sahana Raman, BA, 617-919-1476, Sahana.Raman@childrens.harvard.edu

    Mustafa Sahin, MD, PhD

    Recruiting

  • Massachusetts General Hospital

    Boston, Massachusetts

    Michael Chernov, 617-726-0988, mchernov@mgh.harvard.edu

    Elizabeth Thiele, MD, PhD

    Recruiting

  • Chicago Comer Children's Hospital Neurogenetic Clinic, University of Chicago

    Chicago, Illinois

    Cynthia Mackenzie, RN BSN, MA, cmackenzie@peds.bsd.uchicago.edu

    James Tonsgard, MD

    Recruiting

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio

    Molly Griffith, 513-636-8016, Molly.Griffith@cchmc.org

    Darcy Kreuger, MD, PhD

    Recruiting

  • Cleveland Clinic Foundation

    Cleveland, Ohio

    Honglian Huang, huangh2@ccf.org

    Sherry Fu, fu2@ccf.org

    Recruiting

  • Scottish Rite Hospital for Children

    Dallas, Texas

    Catherine Thompson, CCRP, 214-559-7818, catherine.thompson@tsrh.org

    Ashley Hackett, MD

    Recruiting

  • The Children's Hospital

    Denver, Colorado

    Kaitlyn Kennedy, 720-777-2674, Kaitlyn.Kennedy@childrenscolorado.org

    Jenifer Sargent, 720-777-4719, jenifer.sargent@childrenscolorado.org

    Recruiting

  • Children's National Medical Center

    Fairfax, Virginia

    Nancy Elling, RN, BSN, CPN, 703-635-2873, NELLING@childrensnational.org

    William McClintock, MD

    Recruiting

  • Texas Childrens Hospital Baylor College of Medicine

    Houston, Texas, 77030

    Sarah Wisor-Martinez, sxwisor@texaschildrens.org

    Howard Weiner, MD

    Recruiting

  • Memorial Hermann-Texas Medical Center (University of Texas Houston)

    Houston, Texas

    Luis Gonzalez, 713-500-8913, Luis.Gonzalez.1@uth.tmc.edu

    Hope Northrup, MD

    Recruiting

  • University of Iowa Hospitals and Clinics

    Iowa City, Iowa

    Evelyn Wethington, 319-356-8427, evelyn-wethington@uiowa.edu

    Beatriz Garces-Andalon, M.S., (319)356-8427, beatriz-garces-andalon@uiowa.edu

    Recruiting

  • Children's Mercy Research Institute

    Kansas City, Missouri, 64108

    Rajanna (RJ) Brooks, LPN, 816-652-2344, rrbrooks@cmh.edu

    Mirza Waseem Baig, MD

    Recruiting

  • Loma Linda University Children's Hospital

    Loma Linda, California

    Jose Navarro, LVN, 909-558-5830, JDNavarro@llu.edu

    David Young, MD

    Recruiting

  • University of California Los Angeles

    Los Angeles, California, 90095

    Ruby Escalante, 310-206-5586, RubyEscalante@mednet.ucla.edu

    Angela Martinez, (310) 206-7630, angelamartinez@mednet.ucla.edu

    Recruiting

  • Le Bonheur Children's Hospital

    Memphis, Tennessee

    Ashley Peterson, BSN, RN, 901-287-5168, Ashley.Peterson2@lebonheur.org

    Sarah Weatherspoon, MD

    Recruiting

  • Nicklaus Children's Hospital

    Miami, Florida

    Debbie Newman, 786-624-2853, Deborah.newman@nicklaushealth.org

    Paula Schleifer, MD

    Recruiting

  • New York University Medical Center

    New York, New York

    Audrey Brown, Audrey.Brown@nyulangone.org

    Mariana Figuera Losada, PhD, Mariana.Figueralosada@nyulangone.org

    Recruiting

  • Jack & Julia Center for TSC, Oakland Children's Hospital and Research Center

    Oakland, California

    Completed

  • University of Pennsylvania Medical Center

    Philadelphia, Pennsylvania

    Corinne Merlino, MS, LCGC, 215-662-3567, Corinne.Merlino@pennmedicine.upenn.edu

    Anna Raper, rapera@pennmedicine.upenn.edu

    Recruiting

  • University of Rochester Medical Center

    Rochester, New York, 14642

    Marianna Pereira-Freitas, 585-274-0205, marianna_pereirafreitas@urmc.rochester.edu

    Derek Bauer, MD

    Recruiting

  • Minnesota Epilepsy Group

    Roseville, Minnesota

    Sarah Ellis, CCRC, 651-377-8319, sellis@mnepilepsy.net

    Shadow Lor, slor@mnepilepsy.net

    Recruiting

  • TSC Alliance

    Silver Spring, Maryland, 20910

    Heather Radtke, CGC, 301-562-9890, hradtke@tscalliance.org

    Ayat Abi, aabi@tscalliance.org

    Recruiting

  • Washington University in St. Louis

    St Louis, Missouri, 63110

    Michael Wong, MD, PhD, wong_m@wustl.edu

    Michael Wong, MD, PhD

    Recruiting

Other trials in United States

Canada2 sites, 2 recruiting

  • Centre Hospitalier de l'Université de Montréal

    Montreal

    Ya Ning Zhao, M.Sc., ya.ning.zhao.chum@ssss.gouv.qc.ca

    Mark Keezer, MDMC, PhD

    Recruiting

  • Sainte-Justine Université de Montréal

    Montreal

    Maryse Thibeault, maryse.thibeault.hsj@ssss.gouv.qc.ca

    Philippe Major, MD

    Recruiting

Other trials in Canada

About this study

Official title: 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.

Read the 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.

Being tested
Phlebotomy, Buccal (cheek) swab, Genetic Testing, Tissue donation after routine clinical procedure
Medical subject headings
Tuberous Sclerosis, Lymphangioleiomyomatosis

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • PhlebotomyProcedure or surgery

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

  • Buccal (cheek) swabProcedure or surgery

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

  • Genetic TestingGenetic

    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 procedureOther

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

What is being measured

The primary outcome is the main question the study is designed to answer.

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

    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.

    Measured: Average 15 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted9 Jan 2023
  2. Study startJan 2016
  3. Primary completionDec 2050 (estimated)
  4. Study completionDec 2050 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Other
Time perspective
Other
Enrolment
5,000 participants (estimated)
Target duration
50 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT05676099
Sponsor's protocol ID
15039
Status last verified
Jun 2026
First submitted
21 Dec 2022
Last updated
24 Jun 2026
Results posted
No
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • Pounders AJ, Rushing GV, Mahida S, Nonyane BAS, Thomas EA, Tameez RS, Gipson TT. Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care. Ther Adv Rare Dis. 2022 Dec 10;3:26330040221140125. doi: 10.1177/26330040221140125. eCollection 2022 Jan-Dec.

    PubMed 37180419

  • Rubtsova VI, Chun Y, Kim J, Ramirez CB, Jung S, Choi W, Kelly ME, Lopez ML, Cassidy E, Rushing G, Aguiar DJ, Lau WL, Ahdoot RS, Smith M, Edinger AL, Lee SG, Jang C, Lee G. Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients. iScience. 2024 Jun 13;27(7):110265. doi: 10.1016/j.isci.2024.110265. eCollection 2024 Jul 19.

    PubMed 39027368

  • Parthasarathy S, Mahalingam R, Melchiorre J, Harowitz J, Devinsky O. Mortality in tuberous sclerosis complex. Epilepsy Behav. 2021 Aug;121(Pt A):108032. doi: 10.1016/j.yebeh.2021.108032. Epub 2021 Jun 1.

    PubMed 34087679

  • Chivukula S, Modiri O, Kashanian A, Babayan D, Ibrahim GM, Weil AG, Tu A, Wu JY, Mathern GW, Fallah A. Effect of Gene Mutation on Seizures in Surgery for Tuberous Sclerosis Complex. Can J Neurol Sci. 2021 May;48(3):327-334. doi: 10.1017/cjn.2020.185. Epub 2020 Aug 28.

    PubMed 32854808

  • Gupta A, de Bruyn G, Tousseyn S, Krishnan B, Lagae L, Agarwal N; TSC Natural History Database Consortium. Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study. Pediatr Neurol. 2020 May;106:10-16. doi: 10.1016/j.pediatrneurol.2019.12.016. Epub 2020 Feb 4.

    PubMed 32139167

  • Song J, Swallow E, Said Q, Peeples M, Meiselbach M, Signorovitch J, Kohrman M, Korf B, Krueger D, Wong M, Sparagana S. Epilepsy treatment patterns among patients with tuberous sclerosis complex. J Neurol Sci. 2018 Aug 15;391:104-108. doi: 10.1016/j.jns.2018.06.011. Epub 2018 Jun 15.

    PubMed 30103955

  • Jeong A, Nakagawa JA, Wong M. Predictors of Drug-Resistant Epilepsy in Tuberous Sclerosis Complex. J Child Neurol. 2017 Dec;32(14):1092-1098. doi: 10.1177/0883073817737446.

    PubMed 29129154

  • Jeong A, Wong M. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex. Epilepsia. 2016 Sep;57(9):1443-9. doi: 10.1111/epi.13467. Epub 2016 Jul 15.

    PubMed 27417921

  • Kothare SV, Singh K, Hochman T, Chalifoux JR, Staley BA, Weiner HL, Menzer K, Devinsky O. Genotype/phenotype in tuberous sclerosis complex: associations with clinical and radiologic manifestations. Epilepsia. 2014 Jul;55(7):1020-4. doi: 10.1111/epi.12627. Epub 2014 Apr 22.

    PubMed 24754401

  • Kothare SV, Singh K, Chalifoux JR, Staley BA, Weiner HL, Menzer K, Devinsky O. Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 2014 Jul;55(7):1025-9. doi: 10.1111/epi.12680. Epub 2014 Jun 10.

    PubMed 24917535

  • van Eeghen AM, Nellist M, van Eeghen EE, Thiele EA. Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. Epilepsy Res. 2013 Jan;103(1):83-7. doi: 10.1016/j.eplepsyres.2012.07.007. Epub 2012 Aug 3.

    PubMed 22867869

  • Ehninger D, Sano Y, de Vries PJ, Dies K, Franz D, Geschwind DH, Kaur M, Lee YS, Li W, Lowe JK, Nakagawa JA, Sahin M, Smith K, Whittemore V, Silva AJ. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Mol Psychiatry. 2012 Jan;17(1):62-70. doi: 10.1038/mp.2010.115. Epub 2010 Nov 16.

    PubMed 21079609

  • Boggarapu S, Roberds SL, Nakagawa J, Beresford E. Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database. Orphanet J Rare Dis. 2022 Sep 14;17(1):355. doi: 10.1186/s13023-022-02496-2.

    PubMed 36104799

  • Aronow ME, Nakagawa JA, Gupta A, Traboulsi EI, Singh AD. Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings. Ophthalmology. 2012 Sep;119(9):1917-23. doi: 10.1016/j.ophtha.2012.03.020. Epub 2012 May 16.

    PubMed 22608477

  • Mowrey K, Northrup H, Rougeau P, Hashmi SS, Krueger DA, Ebrahimi-Fakhari D, Towbin AJ, Trout AT, Capal JK, Franz DN, Rodriguez-Buritica D. Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports. Front Neurol. 2021 Apr 9;12:627672. doi: 10.3389/fneur.2021.627672. eCollection 2021.

    PubMed 33897589

Questions about this trial

What is this clinical trial studying?

An observational study of Tuberous Sclerosis and Lymphangioleiomyomatosis, run by National Tuberous Sclerosis Association at 26 sites in 2 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 24 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 26 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Elizabeth Cassidy, MPH (301-562-9890, ecassidy@tscalliance.org), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Natural History data and biosamples including blood, tissue, or other types of biological samples from individuals with TSC (time frame: Average 15 years). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05676099, which also lists 23 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2026.

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