Please visit Basic Introduction to Clinical Trials for an informational video, questions to ask about the clinical trial, and a brochure you can download.
Click the Become a HERO graphic below to find a clinical trial near you.
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.
New Clinical Trial Sponsored by Novartis: “A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures (EXIST-3)”
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.
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 firstname.lastname@example.org or visit www.tscstudy.com for contact information at each study site.
Early Screening for Autism in Tuberous Sclerosis Complex (TSC)
UCLA and Boston Children's Hospital are seeking volunteers to participate in their research study, read below for more information:
We are currently conducting a study at University of California, Los Angeles (UCLA) and Boston Children’s Hospital for children diagnosed with Tuberous Sclerosis Complex (TSC) 0 months old and up to 3 years of age.
The main goal of this research project is to look for early signs of autism in children with TSC. Up to 60% of children with TSC develop autism, but the diagnosis typically is not made until much later in childhood. Early detection leads to earlier interventions and, hopefully, better behavioral outcomes. We hope that the knowledge gained from this investigation will ultimately lead to earlier diagnosis of autism in infants with and without TSC.
We hope to follow each infant for a few visits at either at University of California, Los Angeles or Boston Children’s Hospital over his or her first 3 years of life. Scheduling of these visits is very flexible and based on your needs. Study visits include behavioral measures, event-related potentials (ERPs), a neurological exam, and EEG. A subset of these measures is conducted at each visit.
There is no fee to participate in this study. Families will be compensated for their time, and travel and parking can be compensated. Children will also receive a small toy at the end of each visit to the lab. If during the testing, we detect any abnormalities that may warrant further interventions, you will be notified. After all data has been analyzed, families will be informed of the overall results of the study.
Enrollment in this research study has begun at both sites. Interested out-of-state families are welcome to participate at either the Los Angeles or Boston site, and compensation may be available for travel costs.
If you are interested in participating in this study at either Boston or UCLA, please send an email to email@example.com
or call 617-678-7348. They will reimburse all travel costs (up to 2 flights) as well as hotel, rental car and also provide funds for meals.
Testing the Effects of RAD001 on Cognition and Autism in Children (Age 6 to 21)
Drs. Mustafa Sahin and Darcy Krueger initiated an investigator-sponsored clinical trial to identify possible neurocognitive benefits from treatment with RAD001 or placebo for a 6 month period. There may also be potential for improvements in seizure frequency, sleep and autistic behaviors. The trial is sponsored by the TS Alliance, Autism Speaks and Novartis Pharmaceuticals. RAD001, the experimental drug proposed in this trial, works as an mTOR pathway inhibitor. Tuberous Sclerosis Complex is caused by defects in the TSC1 and TSC2 genes that negatively control mTOR, a protein that acts as a central regulator of tumor cell division, blood vessel growth, cell metabolism and neuronal migration/wiring. Several mouse models of TSC have been generated to date and all of these mouse models display neurological symptoms, many of which can be reversed by treatment with mTOR inhibitors. While mouse models obviously do not replicate all the symptoms of the human disease, they provide strong scientific rationale for the proposed trial. RAD001, marketed as Afinitor, was approved in November 2010 by the FDA for treatment of SEGAs that cannot be treated with surgery in patients with TSC. Individuals diagnosed with TSC will be asked to participate in the study if they are between the ages of 6 and 21 years of age and have an IQ of greater than or equal to 60. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals must have been on the same seizure medication(s), if applicable, for at least 6 months prior to enrollment. Individuals must also be able to participate in neuropsychological testing and meet certain medical criteria. If enrolled, participants will have a number of screening tests to help determine if they are eligible for participation in the clinical trial. If eligible for the treatment phase of the trial, participants will be asked to take either the study drug or a placebo, which is determined by chance. The study involves about 9 visits to the study center 3 of which can be done locally, over a six month period as well as follow-up calls with our research nurse and study coordinator. There is no fee to participate in this study, and there will be no financial compensation for participation in this study. The study drug will be provided at no charge during the course of the study. After all data has been analyzed, families will be informed of the overall results. Enrollment for this clinical trial is currently ongoing at both Boston Children's Hospital and Cincinnati Children’s Hospital Medical Center and will close in June 2014. Interested out-of-state individuals are welcome to participate and some limited compensation may be available for travel costs. If you are interested in participating in this study, please contact Rachel Friedman at (617) 919-3499 or Rachel.Friedman@childrens.harvard.edu. To participate at Cincinnati Children's Hospital, please contact Maxwell Mays at (513) 636-8016 or Maxwell.firstname.lastname@example.org.
Where: Boston Children's Hospital and Cincinnati Children's Hospital
Principal Investigators: Mustafa Sahin, MD, PhD (Boston) and Darcy Krueger, MD, PhD (Cincinnati)
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 email@example.com.
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 firstname.lastname@example.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 email@example.com.
Please note: Participants do not have to travel to Boston to participate in the study.
A Chart Review Study, Principal Investigator: John Pollard, MD
Are you an adult with tuberous sclerosis complex (TSC) who is planning to start taking Sabril as a treatment for seizures? Or, are you the caregiver of a person aged 12 or older who is planning to start taking Sabril as a treatment for seizures?
If so, researchers at the University of Pennsylvania invite you to consider joining a chart-review study that they hope will help them understand how well Sabril works for people who have TSC and seizures. If you decide to join the study, you will not be asked to attend any study visits or do anything differently. By joining the study, you would just be giving the study team permission to get copies of your medical records (or those of the person for whom you act as a caregiver) to learn how well Sabril works.
If you are interested in learning more, please contact the study team at 215-662-7227. A member of the study team would be happy to answer any questions that you have and send you an Informed Consent that will give you some more information about 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. 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.
PI Name: Tanjala Gipson
Study #: NA_00076476
Study Name: Features of Self-Injury in TSC
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.
Rapamycin for Autism Phenotype and Seizure Study *This posting valid through December 2014
We are seeking 4-15 year old participants, diagnosed with Tuberous Sclerosis Complex, autism, and seizures for a research study of rapamycin.
If you are interested, please contact us by phone 443-923-9196 or email firstname.lastname@example.org.
Principal Investigator: Tanjala Gipson, M.D.
Study Coordinator: Kosa Jenkins
Johns Hopkins Medicine approved May 9, 2013 (Study Number: NA_00077086)
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)
Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex (valid until Oct 2018)
Rapalogues for Autism Phenotype in TSC (RAPT): A Feasibility Study (valid through December 2014)
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.