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


Find a Clinical Trial Near You

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United States and International TSC Clinical Trial Search Tool    

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 (valid through October 2016)
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.

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.

If you are interested in learning more about this study, please send an email to or visit 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

Study of Skin Tumors in Tuberous Sclerosis

Study of the Disease Process of Lymphangioleiomyomatosis

Role of Genetic Factors in the Development of Lung Disease

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  It is helpful to register as a donor well in advance of any procedures.  Thank you for your participation.

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.

The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC)  (valid until December 2016)

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

TSC Researcher Seeking Donation of Tissue Samples from Your Surgery

Dr. Elizabeth (Lisa) Henske’s laboratory ( 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 or 857-307-0782 if you are considering any type of surgery or biopsy.  Thank you! (Valid through October 23, 2016)

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 Meghan Dean at or 617-919-3499.

Free Early Intervention Study for Infants with TSC at UCLA and Boston Children’s Hospital, click here for information on the UCLA site and here for Boston.

Biomarker Study for TSC and LAM - U.S. RESIDENTS ONLY (valid through October 2017)

Research Study for Individuals in Whom No Mutation Identified 

Dr. David Kwiatkowski, Brigham and Women’s Hospital, Harvard Medical School, is seeking TSC individuals in whom no mutation can be identified by the usual techniques, to participate in a research study to attempt to identify disease-causing variants in TSC1 or TSC2 using biopsies of TSC skin lesions, and determine the extent of mosaicism in these individuals. We are seeking TSC individuals who are of reproductive age, who seek help with consideration of child-bearing options.  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 with no finding; 3) be willing to have a biopsy of a skin lesion of TSC which could be sent to the Kwiatkowski lab for analysis; 4) be willing to donate both saliva and blood samples for DNA analysis; 5) be of age > 17 years. If you meet these criteria and are interested in participating, please contact Dr. Kwiatkowski at

Phenotypic Variability in Tuberous Sclerosis Complex (TSC) (Study valid through 5.31.2017)

Dr. Narayanan and colleagues at the Translational Genomics Research Institute (TGen) in Phoenix, Arizona are conducting a research study aimed at identifying genetic modifiers of disease severity in TSC. For this study, we are recruiting families in which a parent and child both have TSC. In particular, we are looking for those families where the parent has little or no neurological problems (mild disease) and the child has severe neurological disease (severity assessed by scoring epilepsy and cognitive symptoms). Our goal is to identify those genetic differences between affected parent and affected child that might account for difference in disease severity. This might eventually allow us to devise a blood test (genetic profile) that might be used to predict disease severity, and initiate disease-modifying treatments before children develop severe symptoms.

What is involved in the study?
After appropriate informed consent, participating families will provide samples (blood, and in some cases skin biopsy samples if possible) which will be studied by using the latest in genomic methods.

For more information about this clinical research study, please contact Keri Ramsey at 602-343-8620 or Newell Belnap at 928-369-8692.

A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients with Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures (Valid through July, 2017)

Download the flyer for more information.

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