Recruiting

Observational StudyTSC Biosample Repository and Natural History Database

Sponsor:

National Tuberous Sclerosis Association

Code:

NCT05676099

Conditions

Tuberous Sclerosis

Lymphangioleiomyomatosis

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Phlebotomy

Buccal (cheek) swab

Genetic Testing

Tissue donation after routine clinical procedure

Study Details

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.

Conditions

Tuberous Sclerosis

Lymphangioleiomyomatosis

Study ID

NCT05676099

Start date

Jan, 2016

Status verified date

Jun, 2026

Completion date

Dec, 2050

Anticipated

Primary completion date

Dec, 2050

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

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

Exclusion Criteria:

\-

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Interventions

Phlebotomy

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

Buccal (cheek) swab

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

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.

Tissue donation after routine clinical procedure

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

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 ]

Central Contacts and Locations

Central contacts

Elizabeth Cassidy, MPH

301-562-9890 ecassidy@tscalliance.org

Ayat Abi

aabi@tscalliance.org

Locations

University of Alabama Birmingham

Recruiting

Birmingham, Alabama, United States

Contacts

Jessica Krefting, RN, BSN

205-975-2890 jessicakrefting@uabmc.edu

Principal Investigator:

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

Loma Linda University Children's Hospital

Recruiting

Loma Linda, California, United States

Contacts

Jose Navarro, LVN

909-558-5830 JDNavarro@llu.edu

Principal Investigator:

David Young, MD

University of California Los Angeles

Recruiting

Los Angeles, California, United States, 90095

Contacts

Ruby Escalante

310-206-5586 RubyEscalante@mednet.ucla.edu

Angela Martinez

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

Principal Investigator:

Rajsekar Rajamaraman, MD

The Children's Hospital

Recruiting

Denver, Colorado, United States

Contacts

Kaitlyn Kennedy

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

Jenifer Sargent

720-777-4719 jenifer.sargent@childrenscolorado.org

Principal Investigator:

Kevin Ess, MD

Nicklaus Children's Hospital

Recruiting

Miami, Florida, United States

Contacts

Debbie Newman

786-624-2853 Deborah.newman@nicklaushealth.org

Principal Investigator:

Paula Schleifer, MD

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

Recruiting

Chicago, Illinois, United States

Contacts

Cynthia Mackenzie, RN BSN, MA

cmackenzie@peds.bsd.uchicago.edu

Principal Investigator:

James Tonsgard, MD

University of Iowa Hospitals and Clinics

Recruiting

Iowa City, Iowa, United States

Contacts

Evelyn Wethington

319-356-8427 evelyn-wethington@uiowa.edu

Beatriz Garces-Andalon, M.S.

(319)356-8427 beatriz-garces-andalon@uiowa.edu

Principal Investigator:

Michael Ciliberto, MD

TSC Alliance

Recruiting

Silver Spring, Maryland, United States, 20910

Contacts

Heather Radtke, CGC

301-562-9890 hradtke@tscalliance.org

Ayat Abi

aabi@tscalliance.org

Principal Investigator:

Steven L Roberds, PhD

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States

Contacts

Sahana Raman, BA

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

Principal Investigator:

Mustafa Sahin, MD, PhD

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States

Contacts

Michael Chernov

617-726-0988 mchernov@mgh.harvard.edu

Principal Investigator:

Elizabeth Thiele, MD, PhD

Minnesota Epilepsy Group

Recruiting

Roseville, Minnesota, United States

Contacts

Sarah Ellis, CCRC

651-377-8319 sellis@mnepilepsy.net

Shadow Lor

slor@mnepilepsy.net

Principal Investigator:

Douglas Smith, MD

Children's Mercy Research Institute

Recruiting

Kansas City, Missouri, United States, 64108

Contacts

Rajanna (RJ) Brooks, LPN

816-652-2344 rrbrooks@cmh.edu

Principal Investigator:

Mirza Waseem Baig, MD

Washington University in St. Louis

Recruiting

St Louis, Missouri, United States, 63110

Contacts

Michael Wong, MD, PhD

wong_m@wustl.edu

Principal Investigator:

Michael Wong, MD, PhD

New York University Medical Center

Recruiting

New York, New York, United States

Contacts

Audrey Brown

Audrey.Brown@nyulangone.org

Mariana Figuera Losada, PhD

Mariana.Figueralosada@nyulangone.org

Principal Investigator:

Josiane LaJoie, MD

University of Rochester Medical Center

Recruiting

Rochester, New York, United States, 14642

Contacts

Marianna Pereira-Freitas

585-274-0205 marianna_pereirafreitas@urmc.rochester.edu

Principal Investigator:

Derek Bauer, MD

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States

Contacts

Molly Griffith

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

Principal Investigator:

Darcy Kreuger, MD, PhD

Cleveland Clinic Foundation

Recruiting

Cleveland, Ohio, United States

Contacts

Honglian Huang

huangh2@ccf.org

Sherry Fu

fu2@ccf.org

Principal Investigator:

Ajay Gupta, MD

University of Pennsylvania Medical Center

Recruiting

Philadelphia, Pennsylvania, United States

Contacts

Corinne Merlino, MS, LCGC

215-662-3567 Corinne.Merlino@pennmedicine.upenn.edu

Anna Raper

rapera@pennmedicine.upenn.edu

Principal Investigator:

Mersedeh Rohanizadegan, MD, MPH

Le Bonheur Children's Hospital

Recruiting

Memphis, Tennessee, United States

Contacts

Ashley Peterson, BSN, RN

901-287-5168 Ashley.Peterson2@lebonheur.org

Principal Investigator:

Sarah Weatherspoon, MD

Scottish Rite Hospital for Children

Recruiting

Dallas, Texas, United States

Contacts

Catherine Thompson, CCRP

214-559-7818 catherine.thompson@tsrh.org

Principal Investigator:

Ashley Hackett, MD

Texas Childrens Hospital Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Sarah Wisor-Martinez

sxwisor@texaschildrens.org

Principal Investigator:

Howard Weiner, MD

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

Recruiting

Houston, Texas, United States

Contacts

Luis Gonzalez

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

Principal Investigator:

Hope Northrup, MD

Children's National Medical Center

Recruiting

Fairfax, Virginia, United States

Contacts

Nancy Elling, RN, BSN, CPN

703-635-2873 NELLING@childrensnational.org

Principal Investigator:

William McClintock, MD

Centre Hospitalier de l'Université de Montréal

Recruiting

Montreal, Canada

Contacts

Ya Ning Zhao, M.Sc.

ya.ning.zhao.chum@ssss.gouv.qc.ca

Principal Investigator:

Mark Keezer, MDMC, PhD

Sainte-Justine Université de Montréal

Recruiting

Montreal, Canada

Contacts

Maryse Thibeault

maryse.thibeault.hsj@ssss.gouv.qc.ca

Principal Investigator:

Philippe Major, MD

More Information

Sponsor

National Tuberous Sclerosis Association

Last update posted

Jun 24, 2026

Last verified

Jun, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by National Tuberous Sclerosis Association on 2026-06-24.