Trial Title:
TSC Biosample Repository and Natural History Database
NCT ID:
NCT05676099
Condition:
Tuberous Sclerosis
Lymphangioleiomyomatosis
Conditions: Official terms:
Tuberous Sclerosis
Lymphangioleiomyomatosis
Sclerosis
Study type:
Observational [Patient Registry]
Overall status:
Recruiting
Study design:
Time perspective:
Other
Intervention:
Intervention type:
Procedure
Intervention name:
Phlebotomy
Description:
Participants may elect to submit a blood sample to the Biosample Repository.
Intervention type:
Procedure
Intervention name:
Buccal (cheek) swab
Description:
Participants may elect to submit a buccal swab sample to the Biosample Repository.
Intervention type:
Genetic
Intervention name:
Genetic Testing
Description:
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.
Intervention type:
Other
Intervention name:
Tissue donation after routine clinical procedure
Description:
Participants may elect to submit a tissue sample to the Biosample Repository following a
medical procedure.
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.
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.
Criteria for eligibility:
Study pop:
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.
Sampling method:
Non-Probability Sample
Criteria:
Inclusion Criteria:
- Diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis (sporadic LAM).
Exclusion Criteria:
-
Gender:
All
Minimum age:
N/A
Maximum age:
N/A
Healthy volunteers:
No
Locations:
Facility:
Name:
University of Alabama Birmingham
Address:
City:
Birmingham
Country:
United States
Status:
Recruiting
Contact:
Last name:
Jessica Krefting, RN, BSN
Phone:
205-975-2890
Email:
jessicakrefting@uabmc.edu
Contact backup:
Last name:
Martina Bebin, M.D., M.P.A.
Phone:
(256)-533-0833
Email:
ebebin@uabmc.edu
Facility:
Name:
Loma Linda University Children's Hospital
Address:
City:
Loma Linda
Country:
United States
Status:
Active, not recruiting
Facility:
Name:
University of California Los Angeles
Address:
City:
Los Angeles
Zip:
90095
Country:
United States
Status:
Recruiting
Contact:
Last name:
Ruby Escalante
Phone:
310-206-5586
Email:
RubyEscalante@mednet.ucla.edu
Contact backup:
Last name:
Angela Martinez
Phone:
(310) 206-7630
Email:
angelamartinez@mednet.ucla.edu
Facility:
Name:
Jack & Julia Center for TSC, Oakland Children's Hospital and Research Center
Address:
City:
Oakland
Country:
United States
Status:
Suspended
Facility:
Name:
The Children's Hospital
Address:
City:
Denver
Country:
United States
Status:
Active, not recruiting
Facility:
Name:
Nicklaus Children's Hospital
Address:
City:
Miami
Country:
United States
Status:
Recruiting
Contact:
Last name:
Debbie Newman
Phone:
786-624-2853
Email:
Deborah.newman@nicklaushealth.org
Contact backup:
Last name:
Paola Garcia
Email:
paola.gracia@nicklaushealth.org
Facility:
Name:
Chicago Comer Children's Hospital Neurogenetic Clinic, University of Chicago
Address:
City:
Chicago
Country:
United States
Status:
Active, not recruiting
Facility:
Name:
University of Iowa Hospitals and Clinics
Address:
City:
Iowa City
Country:
United States
Status:
Recruiting
Contact:
Last name:
Liberty Taeger
Phone:
319-356-8427
Email:
liberty-taeger@uiowa.edu
Contact backup:
Last name:
Michael Ciliberto, MD
Email:
michael-ciliberto@uiowa.edu
Facility:
Name:
TSC Alliance
Address:
City:
Silver Spring
Zip:
20910
Country:
United States
Status:
Recruiting
Contact:
Last name:
Elizabeth Cassidy, MPH
Phone:
301-562-9890
Email:
ecassidy@tscalliance.org
Contact backup:
Last name:
Ayat Abi
Email:
aabi@tscalliance.org
Investigator:
Last name:
Steven L Roberds, PhD
Email:
Principal Investigator
Facility:
Name:
Boston Children's Hospital
Address:
City:
Boston
Country:
United States
Status:
Recruiting
Contact:
Last name:
Anna Cronin, MPH
Phone:
617-919-3499
Email:
Anna.Cronin@childrens.harvard.edu
Contact backup:
Last name:
Isabelle Iannotti
Phone:
(617) 919-7623
Email:
isabelle.iannotti@childrens.harvard.edu
Investigator:
Last name:
Mustafa Sahin, MD, PhD
Email:
Principal Investigator
Facility:
Name:
Massachusetts General Hospital
Address:
City:
Boston
Country:
United States
Status:
Recruiting
Contact:
Last name:
Carolyn Wilson
Email:
cwilson41@mgh.harvard.edu
Contact backup:
Last name:
Nick Manickas-Hill
Email:
NMANICKAS-HILL@mgh.harvard.edu
Investigator:
Last name:
Elizabeth Thiele, MD, PhD
Email:
Principal Investigator
Facility:
Name:
Minnesota Epilepsy Group
Address:
City:
Roseville
Country:
United States
Status:
Recruiting
Contact:
Last name:
Sarah Ellis, CCRC
Phone:
651-377-8319
Email:
sellis@mnepilepsy.net
Contact backup:
Last name:
Shadow Lor
Email:
slor@mnepilepsy.net
Investigator:
Last name:
Douglas Smith, MD
Email:
Principal Investigator
Facility:
Name:
Washington University in St. Louis
Address:
City:
Saint Louis
Zip:
63110
Country:
United States
Status:
Recruiting
Contact:
Last name:
Ashley Fasciola, RN, BSN
Phone:
314-454-6120
Email:
fasciolaa@neuro.wustl.edu
Contact backup:
Last name:
Michael Wong, MD, PhD
Email:
wong_m@neuro.wustl.edu
Facility:
Name:
New York University Medical Center
Address:
City:
New York
Country:
United States
Status:
Recruiting
Contact:
Last name:
RC Fletcher
Email:
ronique.fletcher@nyulangone.org
Contact backup:
Last name:
Mariana Figuera Losada
Email:
Mariana.Figueralosada@nyulangone.org
Facility:
Name:
Cincinnati Children's Hospital Medical Center
Address:
City:
Cincinnati
Country:
United States
Status:
Recruiting
Contact:
Last name:
Adrienne Victory
Phone:
513-636-8016
Email:
adrienne.victory@cchmc.org
Contact backup:
Last name:
Molly Griffith
Email:
Molly.Griffith@cchmc.org
Facility:
Name:
Cleveland Clinic Foundation
Address:
City:
Cleveland
Country:
United States
Status:
Recruiting
Contact:
Last name:
Honglian Huang
Email:
huangh2@ccf.org
Contact backup:
Last name:
Ajay Gupta, MD
Email:
gupta1@ccf.org
Facility:
Name:
University of Pennsylvania Medical Center
Address:
City:
Philadelphia
Country:
United States
Status:
Active, not recruiting
Facility:
Name:
Le Bonheur Children's Hospital
Address:
City:
Memphis
Country:
United States
Status:
Recruiting
Contact:
Last name:
Adrienne West
Phone:
901-287-4509
Email:
Adrienne.West@lebonheur.org
Facility:
Name:
Texas Scottish Rite Hospital for Children
Address:
City:
Dallas
Country:
United States
Status:
Recruiting
Contact:
Last name:
Catherine Thompson, CCRP
Email:
catherine.thompson@tsrh.org
Contact backup:
Last name:
Karen Lin, BS
Phone:
682-556-2650
Email:
karen.lin@tsrh.org
Facility:
Name:
Texas Childrens Hospital Baylor College of Medicine
Address:
City:
Houston
Zip:
77030
Country:
United States
Status:
Recruiting
Contact:
Last name:
Sarah Wisor-Martinez
Email:
sxwisor@texaschildrens.org
Investigator:
Last name:
Howard Weiner, MD
Email:
Principal Investigator
Facility:
Name:
Memorial Hermann-Texas Medical Center (University of Texas Houston)
Address:
City:
Houston
Country:
United States
Status:
Recruiting
Contact:
Last name:
Claire Sartwell, RN, BSN
Email:
Claire.Sartwell@uth.tmc.edu
Contact backup:
Last name:
Mariam Lugo Noguera
Phone:
713-500-6350
Email:
Mariam.LugoNoguera@uth.tmc.edu
Investigator:
Last name:
Hope Northrup
Email:
Principal Investigator
Facility:
Name:
Children's National Medical Center
Address:
City:
Fairfax
Country:
United States
Status:
Recruiting
Contact:
Last name:
Nancy Elling, RN, BSN, CPN
Phone:
703-635-2873
Email:
NELLING@childrensnational.org
Contact backup:
Last name:
William McClintock, MD
Email:
WMCCLINT@childrensnational.org
Facility:
Name:
Centre Hospitalier de L'Université de Montréal (Chum)
Address:
City:
Montréal
Country:
Canada
Status:
Recruiting
Contact:
Last name:
Mark Keezer, MSc, MDCM, PhD
Email:
m.keezer@outlook.com
Contact backup:
Last name:
Ya Ning Zhao, MSc
Email:
ya.ning.zhao.chum@ssss.gouv.qc.ca
Facility:
Name:
Sainte-Justine Université de Montréal
Address:
City:
Montréal
Country:
Canada
Status:
Recruiting
Contact:
Last name:
Maryse Thibeault
Email:
maryse.thibeault.hsj@ssss.gouv.qc.ca
Start date:
January 2016
Completion date:
December 2050
Lead sponsor:
Agency:
National Tuberous Sclerosis Association
Agency class:
Other
Source:
National Tuberous Sclerosis Association
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05676099
https://www.tscalliance.org/get-involved/participate-in-research/tsc-biosample-repository-and-natural-history-database/
