Symptoms and General Pathology

All Conditions

Neoplasms

Blood and Lymph Conditions

Immune System Diseases

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Rare Diseases

Sclerosis

Lymphangioleiomyomatosis

Tuberous Sclerosis

Hamartoma

Neoplasms, Multiple Primary

Syndrome

Neoplastic Syndromes, Hereditary

Congenital Abnormalities

Malformations of Cortical Development

Nervous System Malformations

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Lymphangiomyoma

Neoplasms by Histologic Type

Perivascular Epithelioid Cell Neoplasms

Neoplasms, Connective and Soft Tissue

Lymphoproliferative Disorders

Lymphatic Diseases

Immunoproliferative Disorders

Tuberous Sclerosis Complex

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

Phlebotomy

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

Buccal (cheek) swab

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.

Genetic Testing

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

Tissue donation after routine clinical procedure

Elizabeth Cassidy, MPH

Jessica Krefting, RN, BSN

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

Ruby Escalante

Angela Martinez

Mari Vega

Paola Garcia

Liberty Taeger

Michael Ciliberto, MD

Steven L Roberds, PhD

Emine Arcasoy

Isabelle Iannotti

Carolyn Wilson

Elizabeth Thiele, MD, PhD

Rachel Lattery, BSN,RN

Sarah Ellis, CCRC

Ashley Fasciola, RN, BSN

Michael Wong, MD, PhD

Emanuel Belen

Orrin Devinsky, MD

Adrienne Victory

Molly Griffith

Honglian Huang

Ajay Gupta, MD

Nick Leal

Lauren Davis

Catherine Thompson, CCRP

Daniel Gonzalez

Sarah Wisor-Martinez

Howard Weiner, MD

Claire, RN, BSN

Alexis Rodriguez

Nancy Elling, RN, BSN, CPN

William McClintock, MD

Mark Keezer, MSc, MDCM, PhD

Rihem Bouamoucha

Maryse Thibeault

Cosmina Ciulea

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.

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.

Biological materials will be collected at different timepoints in conjunction with procedures that are done for clinical reasons or when consent is given to collect the sample expressly for this research study. Historical cord blood, dried blood spot or placental tissue samples may be collected. Postmortem organ tissue may be collected with consent from the parent/legal guardian of the deceased person with TSC who was enrolled in this protocol or from whom medical records are available to enter relevant clinical data in the NHD.

Blood spots may be collected using at-home commercial devices shipped to participants or at CSS using available resources. Blood spots may be created when blood samples arrive at VAI. Biosamples may be processed and analyzed for genetic variants using whole genome sequencing (WGS) or other sequencing methods.

TSC Biosample Repository and Natural History Database

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

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.

National Tuberous Sclerosis Association

Spots Global Cancer Trial Database for tissue donation after routine clinical procedure