Please visit Basic Introduction to Clinical Trials for an informational video, questions to ask about the clinical trial, and a brochure you can download.
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.
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
tsc.development.study@gmail.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)
Where: Boston Children's Hospital and Cincinnati Children's Hospital
Principal Investigators: Mustafa Sahin, MD, PhD (Boston) and David N. Franz, MD (Cincinnati)
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 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 Nikki Kamos at (513) 636-9669 or nichole.kamos@cchmc.org.
Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in 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: Martina Bebin, MD (Birmingham), Joyce Wu, MD (Los Angeles), Mustafa Sahin, MD, PhD (Boston), Darcy Krueger, MD, PhD (Cincinnati), Hope Northrup, MD (Houston)
The purpose of this study is to determine whether EEG during infancy is a reliable biomarker to identify TSC patients that will develop infantile spasms/epilepsy in the near future and thus are appropriate candidates for an antiepileptogenic drug trial. Since not all patients with TSC develop epilepsy, it would be useful to have a biomarker that could predict those patients destined to have epilepsy and thus identify those TSC patients most appropriate for an antiepileptogenic drug trial. A recent study suggests that treating TSC patients with an abnormal EEG prior to onset of infantile spasms with vigabatrin may improve neurological outcome, but the use of EEG as a reliable biomarker of future epilepsy has not been rigorously validated. In this specific aim, we will test the reliability of EEG in predicting future development of infantile spasms or epilepsy in TSC patients during the first year of life.
A total of 30 infants less than 6 months of age will be recruited who are seizure free at the time of the study enrollment and meet genetic or clinical diagnostic criteria for TSC. A single venous blood sample will be drawn from the child and parents/family guardian for future research studies.
If you are interested in learning more about this study, please send an email to Jessica Krefting, RN, at the University of Alabama at Birmingham (jessicakrefting@uab.edu) or visit http://www.clinicaltrials.gov/ct2/show/NCT01767779 for names and phone numbers of contacts 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.
STARS: TS Clinical Research Study
This study is currently recruiting participants. Verified by Penn Epilepsy Center, November 2010
Sabril is an FDA-approved treatment for the following:
- Complex partial seizures in adults
- Infantile spasms, including those due to Tuberous Sclerosis
What is the STARS: TS Study?
The STARS: TS Study is a clinical research study. We hope that it will help doctors learn about how safe Sabril is and how well it controls seizures in adult patients with Tuberous Sclerosis.
Who is eligible join the study?
You may be able to join if you:
- Have been diagnosed with tuberous sclerosis
- Have at least 1 seizure per month
What does the study involve?
The study takes 8 months to complete. Participants will take Sabril for 3 months during the study, and may continue to take it after they finish the study if they have a decrease in seizures and don’t have any serious side effects. The study involves 4 visits to the Penn Epilepsy Center and 8 phone calls with the study staff.
If I can get Sabril without being in the study, why join?
Benefits of joining the study include:
- Trying Sabril with frequent safety monitoring
- Access to study doctors and coordinators
- Contributing to the TS community and helping future TS patients
- We hope that this study will establish how safe and effective Sabril is as a treatment for seizures caused by tuberous sclerosis.
For more information or to join the study, call:
Penn Epilepsy Center at 215-662-7227.
This research study was approved by the University of Pennsylvania IRB on 11/10/2010.
Non-Invasive Eye Screening
Ophthalmologists and scientists at the Columbia University Edward Harkness Eye Institute are interested in studying the underlying cellular mechanisms behind visual field loss caused by vigabatrin, paving the way for the possibility of improved diagnosis and therapies that can undercut the disease before it begins. Non-invasive and "no-touch" retinal imaging will be tested as a surrogate for efficacy of treatment with an mTOR inhibitor (Sirolimus or Everolimus) and monitoring of vigabatrin toxicity in individuals with tuberous sclerosis complex (TSC)
- Retinal hamartomas are the most common retinal manifestation of TSC and are identified in approximately 40 to 50% of individuals with TSC.
- The treatment of seizures with vigabatrin may be associated with progressive, irreversible loss of peripheral vision in individuals with TSC.
If you or your loved one with TSC has disease-related retinal eye disease and are interested in participating in our study or have questions about the study, please feel free to contact us. Each participant will have a complete eye exam, including eye photography, measurement of visual acuity, dilation of pupils for examination of the retina. There is no direct compensation for the study.
To contact us:
Dr. Mirela Tabacaru, mt2763@columbia.edu or Dr. Yaho Li, liyao.hmu@gmail.com
Doris Duke Clinical Research Fellows
Edward Harkness Eye Institute
Columbia University
160 Ft. Washington Avenue, Room 618 / 509C
Phone: (212) 305-5664
Fax: (646) 426-0205
This study was approved by the Columbia University Institutional Review Board on 03/24/2010.
Topical Rapamycin to Erase Angiofibromas in TSC (Treatment)
www.clinicaltrials.gov/ct2/show/NCT01526356?term=tuberous+sclerosis+complex&rank=15
Study of Skin Tumors in Tuberous Sclerosis
www.clinicaltrials.gov/ct2/show/NCT00001975?term=tuberous+sclerosis&rank=1
Tuberous Sclerosis Complex Natural History Study: Renal Manifestations
www.clinicaltrials.gov/ct2/show/NCT00598455?term=tuberous+sclerosis&rank=2
Everolimus (RAD001) Therapy for Epilepsy in Patients with TSC
www.clinicaltrials.gov/ct2/show/NCT01070316?term=tuberous+sclerosis&recr=Open&rank=5
Study of the Disease Process of Lymphangioleiomyomatosis
www.clinicaltrials.gov/ct2/show/NCT00001465?term=tuberous+sclerosis&rank=10
Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women
This study is currently recruiting participants. Verified by National Institutes of Health Clinical Center (CC), August 2009
www.clinicaltrials.gov/ct2/show/NCT00552955?term=tuberous+sclerosis&rank=11
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.
Allelic Expression Imbalance (AEI) in Tuberous Sclerosis Complex (TSC).
This research project has been approved by the St. Joseph's Hospital and Medical Center IRB. Drs. Narayanan and Jentarra are recruiting: 1. parent-child pairs with TSC; and 2. large families with TSC where there is phenotypic variability (some severely affected children or adults).
Principal Investigator:
Dr. Vinodh Narayanan, MD
Director, Tuberous Sclerosis Center
St. Joseph's Hospital and Medical Center
Barrow Neurological Institute
Phoenix, AZ 85013
Co-Investigator:
Dr. Garilyn M. Jentarra, PhD
Research Associate
Barrow Neurological Institute
Phoenix, AZ 85013
Contact:
Dr. Narayanan or Dr. Jentarra 602-406-3129 or 602-406-3130
Email: Vinodh.Narayanan@chw.edu or Garilyn.Jentarra@chw.edu
Description of the Research Study: The goal of this research is to understand the basis of variability in clinical severity among patients with TSC. There can be a considerable variation in severity even within a single family, where all affected individuals have the same gene mutation. It is not rare that a child will be evaluated by a neurologist for seizures, and a parent not even be aware of the fact that he/she might carry the same disorder, but milder. Several factors may contribute to this phenotypic variability including the specific gene mutation, random occurrence of "second-hit" somatic mutations, influence of other "modifying genes." and environmental factors.
We hypothesize that allele-specific gene expression of the TSC genes plays an important role in modifying disease severity. In other words, a patient who expresses more of the normal gene (than the mutant gene) will have milder symptoms than a patient who expresses more of the mutant gene. We have already done some preliminary studies in normal individuals showing that the expression from the two alleles (gene copies) of the TSC genes is not 50:50.
We are now recruiting families with more than one affected individual, especially those with a known genetic mutation. By this strategy, we hope to determine if the variation in severity correlates with the ratio of mutant:normal gene expression, in each family. We hope that this will lead to a method for predicting clinical severity in newly diagnosed patients.
Epilepsy Phenome/Genome Project (EPGP)
A consortium of epilepsy centers and the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH) are working to indentify genes that influence the development of epilepsy and pharmocoresponsiveness (response to epilepsy medications). If you have epilepsy and also have a brother or sister with epilepsy, or you have epilepsy due to:
- Infantile spasms
- Lennox-Gastaut Syndrome
- Polymicrogyria
- Periventricular heterotopia
Then you can participate in the EPGP. Participation in the project includes:
- A blood sample and interviews
- Paticipation will take 2-4 hours
- You will not need to come to a research clinic
- Participants will receive compensation
Please contact the EPGP staff to learn more at:
Website: www.epgp.org
Email: info@epgp.org
Call toll-free: 1-888-279-EPGP (3747) Se habla español.
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.
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.
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