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A BASIC INTRODUCTION TO CLINICAL TRIALS

Please visit Basic Introduction to Clinical Trials for an informational video, questions to ask about the clinical trial, and a brochure you can download.

LIST OF CURRENT CLINICAL TRIALS/STUDIES RELATED TO TSC 

Find a Clinical Trial Near You

Click the Become a HERO graphic below to find a clinical trial near you.

Current TSC Clinical Trial Listings

These clinical trial descriptions are for informational purposes only. Individuals with TSC should discuss with their health care providers whether participating in a clinical trial is appropriate and advisable. Your health care provider can also discuss this with the Principal Investigator (PI) of the study to determine if you are eligible and if it is advisable for you to participate. Only TSC clinical trials and clinical studies that have obtained Institutional Review Board approval are listed below.


Early Biomarkers of Autism in Infants with Tuberous Sclerosis Complex (TSC)
Where: TSC Clinical Research Consortium sites at Boston Children’s Hospital, Cincinnati Children’s Hospital, University of Alabama at Birmingham, University of California at Los Angeles, University of Texas at Houston
Principal Investigators: Mustafa Sahin, MD, PhD (Boston), Darcy Krueger, MD, PhD (Cincinnati), Martina Bebin, MD (Birmingham), Joyce Wu, MD (Los Angeles), Hope Northrup, MD (Houston)

We are enrolling 3-9 month old infants with a diagnosis of tuberous sclerosis complex (TSC) for a new study on early markers of autism. The goal of this project is to use behavioral testing, MRI and EEG techniques to identify children at risk for developing autism starting at 3 months of age and continuing until 36 months of age.

Who is eligible to participate? 
Infants diagnosed with TSC will be eligible to participate in this study if they are between the ages of 3 and 9 months of age (under 10 months).

What will we do? 
If you agree to participate, the research team will obtain your informed consent. The study involves up to seven visits to a study site over a three year time period. The study visits will include behavioral testing, MRIs and EEGs. Parents will be with their child at all times.

Cost/Time Commitment
Study visits will vary in length based on your child’s age, but generally be a few hours in time. 

There is no fee to participate in this study. A voucher for parking and meals will be provided to you at each study visit. Travel funding may be available.

Results
Summary scores of your child’s behavioral testing, MRI and EEG results will be provided to you. Every step of the way, if new results from the testing are concerning, we will notify you and assist you in obtaining referrals or interventions, if you choose. After all study data has been analyzed, we will inform families of the overall results.

Contacts
If you are interested in learning more about this study, please send an email to info@tscstudy.com or visit www.tscstudy.com for contact information at each study site.


The Sirolimus and Autophagy Inhibition in LAM (SAIL) research trial is currently seeking women with LAM

Brigham and Women’s Hospital, in Boston, MA is currently enrolling women with Lymphangioleiomyomatosis (LAM) in a clinical trial to test the safety of sirolimus (Rapamycin) in combination with hydroxychloroquine. All subjects will receive study drug provided by the trial.

Participation requires 7 visits over 1 year and involves physical exams, blood and urine samples, X-rays, CT scans, MRIs, breathing tests, exercise tests, questionnaires, and an at-home diary.

For more information including risks and study procedures please contact Betsy Peters, RN at 617-525-9331 or email at epeters2@partners.org.


Study of Skin Tumors in Tuberous Sclerosis

www.clinicaltrials.gov/ct2/show/NCT00001975?term=tuberous+sclerosis&rank=1


Study of the Disease Process of Lymphangioleiomyomatosis

www.clinicaltrials.gov/ct2/show/NCT00001465?term=tuberous+sclerosis&rank=10


Role of Genetic Factors in the Development of Lung Disease

www.clinicaltrials.gov/ct2/show/NCT00001532?term=tuberous+sclerosis&rank=12


Dr. David Kwiatkowski at the Brigham & Women’s Hospital in Boston is seeking biospecimens for LAM/TSC research.  

His research involves analyzing left over fluid and tissue samples from chest and abdominal drains and surgery. After the fluid or tissue is removed and processed by your hospital, he will use it to try to grow LAM/TSC cells in order to better understand the disease.  There will be no additional medical tests for you and no cost to participate.  

If you are willing to donate such specimens, he would like to have the samples collected and sent to his lab through the NDRI Private Donor Program. The NDRI is a nonprofit organization funded by the NIH which facilitates the transfer of these precious biospecimens to a number of labs for these kinds of studies.

Please contact the NDRI at 800-222-6374 or privatedonorprogram@ndriresource.org.  It is helpful to register as a donor well in advance of any procedures.  Thank you for your participation.


Seeking individuals with TSC in whom genotyping found no mutation

Dr. David Kwiatkowski, Brigham and Women’s Hospital, Harvard Medical School, is seeking TSC subjects in whom no mutation can be identified by the usual techniques, to participate in an institutional review board approved research study to attempt to identify unusual variants in TSC1 or TSC2, and variation elsewhere in the genome that may explain why they have developed TSC.
 
To participate in this study, individuals with TSC must meet the following criteria: 1) have a definite diagnosis of TSC by an expert doctor; 2) have undergone molecular testing for TSC1/TSC2 mutations by an expert lab; 3) be willing to have your entire genome sequence analyzed and shared anonymously with other researchers; 4) the TSC individual and both parents must be willing to give a blood sample for these analyses. If you are interested in participating, please contact Dr. Kwiatkowski at dk@rics.bwh.harvard.edu.
 
Please note: Participants do not have to travel to Boston to participate in the study.


Investigators at the Kennedy Krieger Institute are conducting a survey to better understand self-injurious and aggressive behaviors that some individuals with Tuberous Sclerosis demonstrate (valid through February 2016). Because little is understood about disruptive behaviors in TSC, we are asking for parents/guardians to provide us with information about disruptive behaviors in individuals with TSC. If you have a child of any age with Tuberous Sclerosis and are interested in participating in the survey, please click here.  Your completion of this survey will serve as your consent to be in this research study.

Contact Information: 
PI Name: Tanjala Gipson
Study #:  NA_00076476
Study Name:  Features of Self-Injury in TSC
Phone:  443-923-9400
Toll-Free: 888-554-2080
Email: tsclinic@kennedykrieger.org 


The Department of Dermatology at the University of California, Irvine is conducting a research study on tuberous sclerosis *This posting valid through October 31, 2015.

Click here for more information.


Donate Newly Lost Teeth for Cell Research.  New research at the University of Tennessee shows that nerve cells can be grown from the dental pulp of lost teeth. Your child's lost teeth may be the key to understanding how the mutation affects these important nerve cells. Download the flyer for more information.


A randomized, placebo-controlled study to investigate the efficacy and safety of Circadin® to alleviate sleep disturbances in children with neurodevelopmental disabilities; Study Site: Kennedy Krieger Institute, Baltimore, MD  (This posting valid through 8/31/2014) Download the study flyer for more information.


The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC)  (valid until June 2015)

www.clinicaltrials.gov/ct2/show/NCT02061397?term=tuberous+sclerosis&rank=22


Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex (valid until Oct 2018)

www.clinicaltrials.gov/ct2/show/NCT02098759?term=tuberous+sclerosis&recr=Open&rank=8


Rapalogues for Autism Phenotype in TSC (RAPT): A Feasibility Study (Valid through April 2015)

Are you or your loved one suffering from behavioral symptoms of tuberous sclerosis complex? Kennedy Krieger is looking for participants ages 2– 30 years who have TSC and disruptive behaviors to determine if a rapalogue may be helpful. If you are interested in learning more about or seeing if you or your loved one qualifies, please contact the study team by phone 443-923-3850 or email ResearchTrials@kennedykrieger.org.


Quality of life in children with cutaneous stigmata of TSC (valid through September 10, 2015)

Dr. Jennifer Huang at Boston Children’s Hospital is conducting an online survey to help advocate for better access to care for the skin features of this condition.   The survey will take about 10-15 minutes to complete.  Click on the survey link at https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=WEHJ77LCAY.


Dr. Elizabeth (Lisa) Henske’s laboratory (HenskeLab.org) has a new project to develop cellular models of LAM and angiomyolipomas to catalyze translational research. Please contact us if you are considering lung transplantation or any type of surgery. We are actively seeking tissue specimens from LAM, angiomyolipomas, lung transplantation, chylous fluid, uterine fibroids or tumors, or any other tissue or specimen from individuals with LAM or TSC. Please provide as much advance notice as possible so that the tissue can be properly collected. Please contact Lisa Henske at EHenske@Partners.org or 617-355-9049 if you are considering any type of surgery or biopsy.  Thank you! (Valid through December 31, 2015)


Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (Valid through December 31, 2017)

We are enrolling individuals between the ages of 3 and 21 years old with a diagnosis of tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD) and/or intellectual disability (ID) for a new study. The goal of this study is to gain a better understanding of ASD/ID in individuals with TSC so that effective treatments and interventions for ASD/ID can be found.

Where is this study taking place? Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles, University of Texas at Houston

Who are the Principal Investigators? Mustafa Sahin, MD, PhD (Boston), Darcy Krueger, MD, PhD (Cincinnati), Martina Bebin, MD (Birmingham), Joyce Wu, MD (Los Angeles), Hope Northrup, MD (Houston)

Who is eligible to participate? Individuals diagnosed with TSC and autism spectrum disorder and/or intellectual disability are eligible to participate in this study if they are between the ages of 3 and 21 years old.

What will we do? The study involves five visits over a two year period. Three of the visits occur on-site at a study location. The other two visits occur as phone calls. The on-site visits include blood draws, physical/neurological exams and behavioral testing.

What is the time commitment/cost to participate? There is no fee to participate in this study, and there will be no financial compensation for participation in this study. 

What results are provided? Summary scores of your child’s behavioral testing will be provided to you.

Contact Information If you are interested in learning more about this study, please contact Rachel Friedman at Rachel.friedman@childrens.harvard.edu or 617-919-3499.


 
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Unlock the Cure: The Tipping Point in the Battle Against TSC
Tuberous Sclerosis Alliance Overview
La Esclerosis Tuberosa (Spanish Intro to TSC)
Infantile Spasms & TSC: A Devastating Diagnosis
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