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History of Changes for Study: NCT05676099
TSC Biosample Repository and Natural History Database
Latest version (submitted February 7, 2024) on ClinicalTrials.gov
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Study Record Versions
Version A B Submitted Date Changes
1 January 6, 2023 None (earliest Version on record)
2 July 25, 2023 Contacts/Locations and Study Status
3 February 7, 2024 Study Status and References
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Study NCT05676099
Submitted Date:  January 6, 2023 (v1)
Open or close this module Study Identification
Unique Protocol ID: 15039
Brief Title: TSC Biosample Repository and Natural History Database
Official Title: TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database
Secondary IDs:
Open or close this module Study Status
Record Verification: January 2023
Overall Status: Recruiting
Study Start: January 2016
Primary Completion: December 2050 [Anticipated]
Study Completion: December 2050 [Anticipated]
First Submitted: December 21, 2022
First Submitted that
Met QC Criteria:		 January 6, 2023
First Posted: January 9, 2023 [Actual]
Last Update Submitted that
Met QC Criteria:		 January 6, 2023
Last Update Posted: January 9, 2023 [Actual]
Open or close this module Sponsor/Collaborators
Sponsor: National Tuberous Sclerosis Association
Responsible Party: Sponsor
Collaborators:
Open or close this module Oversight
U.S. FDA-regulated Drug: No
U.S. FDA-regulated Device: No
Data Monitoring:
Open or close this module Study Description
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.
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.
Open or close this module Conditions
Conditions: Tuberous Sclerosis
Lymphangioleiomyomatosis
Keywords:
Open or close this module Study Design
Study Type: Observational [Patient Registry]
Observational Study Model: Other
Time Perspective: Other
Biospecimen Retention: Samples With DNA
Biospecimen Description:

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.
Enrollment: 5000 [Anticipated]
Number of Groups/Cohorts 0
Target Follow-Up Duration: 50 Years
Open or close this module Groups and Interventions
Intervention Details:
Procedure: Phlebotomy
Participants may elect to submit a blood sample to the Biosample Repository.
Procedure: Buccal (cheek) swab
Participants may elect to submit a buccal swab sample to the Biosample Repository.
Genetic: 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.
Open or close this module Outcome Measures
Primary Outcome Measures:
1. Natural History data and biosamples including blood, tissue, or other types of biological samples from individuals with TSC
[ Time Frame: Average 15 years ]

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.
Open or close this module Eligibility
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.
Sampling Method: Non-Probability Sample
Minimum Age:
Maximum Age:
Sex: All
Gender Based:
Accepts Healthy Volunteers: No
Criteria:

Inclusion Criteria:

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

Exclusion Criteria:

-
Open or close this module Contacts/Locations
Central Contact Person: Gabrielle Rushing, PhD
Telephone: 629-802-9411
Email: grushing@tscalliance.org
Central Contact Backup: Elizabeth Cassidy, MPH
Telephone: 240-638-4654
Email: ecassidy@tscalliance.org
Locations: United States, Alabama
University of Alabama Birmingham
[Recruiting]
Birmingham, Alabama, United States
Contact:Contact: Jessica Krefting, RN, BSN 205-975-2890 jessicakrefting@uabmc.edu
Contact:Contact: Martina Bebin, M.D., M.P.A. (256)-533-0833 ebebin@uabmc.edu
United States, California
Loma Linda University Children's Hospital
[Active, not recruiting]
Loma Linda, California, United States
University of California Los Angeles
[Recruiting]
Los Angeles, California, United States, 90095
Contact:Contact: Ruby Escalante 310-206-5586 RubyEscalante@mednet.ucla.edu
Contact:Contact: Angela Martinez (310) 206-7630 angelamartinez@mednet.ucla.edu
Jack & Julia Center for TSC, Oakland Children's Hospital and Research Center
[Suspended]
Oakland, California, United States
United States, Colorado
The Children's Hospital
[Active, not recruiting]
Denver, Colorado, United States
United States, Florida
Nicklaus Children's Hospital
[Recruiting]
Miami, Florida, United States
Contact:Contact: Mari Vega 305-968-5491 marinellie.vega@nicklaushealth.org
Contact:Contact: Paola Garcia paola.gracia@nicklaushealth.org
United States, Illinois
Chicago Comer Children's Hospital Neurogenetic Clinic, University of Chicago
[Active, not recruiting]
Chicago, Illinois, United States
United States, Iowa
University of Iowa Hospitals and Clinics
[Recruiting]
Iowa City, Iowa, United States
Contact:Contact: Liberty Taeger 319-356-8427 liberty-taeger@uiowa.edu
Contact:Contact: Michael Ciliberto, MD michael-ciliberto@uiowa.edu
United States, Maryland
TSC Alliance
[Recruiting]
Silver Spring, Maryland, United States, 20910
Contact:Contact: Elizabeth Cassidy, MPH 240-638-4654 ecassidy@tscalliance.org
Contact:Contact: Gabrielle Rushing, PhD 629-802-9411 ecassidy@tscalliance.org
United States, Massachusetts
Boston Children's Hospital
[Recruiting]
Boston, Massachusetts, United States
Contact:Contact: Emine Arcasoy 617-919-7624 emine.arcasoy@childrens.harvard.edu
Contact:Contact: Isabelle Iannotti (617) 919-7623 isabelle.iannotti@childrens.harvard.edu
Massachusetts General Hospital
[Recruiting]
Boston, Massachusetts, United States
Contact:Contact: Carolyn Wilson cwilson41@mgh.harvard.edu
Contact:Contact: Elizabeth Thiele, MD, PhD ETHIELE@mgh.harvard.edu
United States, Minnesota
Minnesota Epilepsy Group
[Recruiting]
Roseville, Minnesota, United States
Contact:Contact: Rachel Lattery, BSN,RN 651-377-8335 rlattery@mnepilepsy.net
Contact:Contact: Sarah Ellis, CCRC 651-377-8319 sellis@mnepilepsy.net
United States, Missouri
Washington University in St. Louis
[Recruiting]
Saint Louis, Missouri, United States, 63110
Contact:Contact: Ashley Fasciola, RN, BSN 314-454-6120 fasciolaa@neuro.wustl.edu
Contact:Contact: Michael Wong, MD, PhD wong_m@neuro.wustl.edu
United States, New York
New York University Medical Center
[Recruiting]
New York, New York, United States
Contact:Contact: Emanuel Belen 646-558-0875 Emanuel.Belen@nyulangone.org
Contact:Contact: Orrin Devinsky, MD od4@nyu.edu
United States, Ohio
Cincinnati Children's Hospital Medical Center
[Recruiting]
Cincinnati, Ohio, United States
Contact:Contact: Adrienne Victory 513-636-8016 adrienne.victory@cchmc.org
Contact:Contact: Molly Griffith Molly.Griffith@cchmc.org
Cleveland Clinic Foundation
[Recruiting]
Cleveland, Ohio, United States
Contact:Contact: Honglian Huang huangh2@ccf.org
Contact:Contact: Ajay Gupta, MD gupta1@ccf.org
United States, Pennsylvania
University of Pennsylvania Medical Center
[Active, not recruiting]
Philadelphia, Pennsylvania, United States
United States, Tennessee
Le Bonheur Children's Hospital
[Recruiting]
Memphis, Tennessee, United States
Contact:Contact: Nick Leal 901-287-5886 Nicolas.Leal@lebonheur.org
Contact:Contact: Lauren Davis (901) 287-4594 Lauren.Davis2@lebonheur.org
United States, Texas
Texas Scottish Rite Hospital for Children
[Recruiting]
Dallas, Texas, United States
Contact:Contact: Catherine Thompson, CCRP catherine.thompson@tsrh.org
Contact:Contact: Daniel Gonzalez daniel.gonzalez@tsrh.org
Memorial Hermann-Texas Medical Center (University of Texas Houston)
[Recruiting]
Houston, Texas, United States
Contact:Contact: Claire, RN, BSN Claire.Sartwell@uth.tmc.edu
Contact:Contact: Alexis Rodriguez Alexis.Rodriguez@uth.tmc.edu
United States, Virginia
Children's National Medical Center
[Recruiting]
Fairfax, Virginia, United States
Contact:Contact: Nancy Elling, RN, BSN, CPN 703-635-2873 NELLING@childrensnational.org
Contact:Contact: William McClintock, MD WMCCLINT@childrensnational.org
Canada
Centre Hospitalier de L'Université de Montréal (Chum)
[Not yet recruiting]
Montréal, Canada
Contact:Contact: Mark Keezer, MSc, MDCM, PhD m.keezer@outlook.com
Contact:Contact: Veronique Cloutier veronique.cloutier.chum@ssss.gouv.qc.ca
Sainte-Justine Université de Montréal
[Recruiting]
Montréal, Canada
Contact:Contact: Maryse Thibeault maryse.thibeault.hsj@ssss.gouv.qc.ca
Contact:Contact: Cosmina Ciulea cosmina.ciulea.hsj@ssss.gouv.qc.ca
Open or close this module IPDSharing
Plan to Share IPD:
Open or close this module References
Citations: 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. Erratum In: Mol Psychiatry. 2012 Apr;17(4):469. 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
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
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
Swallow E, King S, Song J, Peeples M, Signorovitch JE, Liu Z, Prestifilippo J, Frost M, Kohrman M, Korf B, Krueger D, Sparagana S. Patterns of Disease Monitoring and Treatment Among Patients With Tuberous Sclerosis Complex-related Angiomyolipomas. Urology. 2017 Jun;104:110-114. doi: 10.1016/j.urology.2017.02.036. Epub 2017 Mar 2. PubMed 28263820
Hsieh LS, Wen JH, Nguyen LH, Zhang L, Getz SA, Torres-Reveron J, Wang Y, Spencer DD, Bordey A. Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice. Sci Transl Med. 2020 Nov 18;12(570):eabc1492. doi: 10.1126/scitranslmed.abc1492. PubMed 33208499
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