If you are interested in participation in any of these studies, please contact us at TNC@childrens.harvard.edu.
We are currently conducting a clinical research study at Boston Children’s Hospital for individuals 18 months and older with a diagnosis of tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD) and/or intellectual disability (ID). 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. This is a multi-center research study conducted as part of the Rare Disease Clinical Research Network (RDCRN) and sponsored by the National Institutes of Health (NIH).
English- and Spanish- speaking individuals diagnosed with TSC and autism spectrum disorder and/or intellectual disability are eligible to participate in this study if they 18 months or older.
The study involves three on-site or virtual visits over a two year period. Visits involve a blood draw, physical and neurological exam and developmental testing.
| For more information, please contact: Emine Arcasoy | (617) 919-7624 | emine.arcasoy@childrens.harvard.edu |
The TSC Alliance has established a TSC Natural Hisotry database to capture clinical information and document the impact of TSC on a person’s health over their lifetime. The goal of this study is to develop a database of information from individuals with TSC. We hope that from the information collected, researchers can gain a better understanding of the development of the disease, improve the clinical care of individuals with TSC by finding better ways to treat the different symptoms that affect both children and adults, and ultimately discover a cure.
The only eligibility requirement for this study is a diagnosis of TSC. Participating in this study means allowing us to collect medical information about you/your child and entering it into the database. We may also ask your permission to use medical information that has been collected about you/your child by other doctors in the past. No identifying information will be recorded in the database and you can withdraw from the study at any time.
| For more information, please contact: Isabelle Iannotti | (617) 919-7623 | Isabelle.Iannotti@childrens.harvard.edu |
Our team at BCH is participating in a trial to evaluate sirolimus as a protective, preventative treatment for babies with TSC who are at risk of developing epilepsy. Sirolimus is a medication that restores control of mTOR and has been used since 2003 to treat many of the symptoms of TSC, including epilepsy. This study tests if treatment with sirolimus started before six months of age in infants diagnosed with TSC who have not yet started to have seizures is safe and effective in preventing or delaying seizures from starting. The study also will evaluate the effects of early treatment on long-term learning and development.
Patients who are 0-6 months at the time of treatment initiation, have a confirmed diagnosis of TSC based on established clinical or genetic criteria, and have no prior history of seizures are eligible to participate. This is a double-blind, placebo controlled clinical trial. Participants in this trial will be in the treatment period until 12-months-of-age and will have one follow up visit at 24-months-of-age, requiring in total, up to 8 on-site visits at Boston Children’s Hospital.
There is no compensation for your participation in this study. However, there may be limited travel funding available.
| For more information, please contact: Emine Arcasoy | (617) 919-7624 | emine.arcasoy@childrens.harvard.edu |
Are you or your child with TSC enrolled in the TSC Natural History Database? The TSC Alliance has established a TSC Biosample Repository to collect blood, tissue, and other types of bodily samples to be used for research which may lead to a better understanding of TSC and possible new treatments. Your/your child’s participation in the TSC Biosample Repository Project is voluntary. There is no immediate benefit to volunteers. If you are (your child is) enrolled in the TSC Natural History Database and have a definite diagnosis of TSC you may ask the Director of the TSC Clinic at your (your child’s) next clinic visit for more information about this study.
| For more information, please contact: Isabelle Iannotti | (617) 919-7623 | Isabelle.Iannotti@childrens.harvard.edu |
Clinicians at Boston Children’s Hospital are trying to find out how we can improve the symptoms of Tuberous Sclerosis Complex (TSC)-related epilepsy disorder. We are conducting this study to see if an investigational medication called ganaxolone (GNX) is safe and effective (whether it works as intended). We are enrolling children or adults who are 2-65 years old with a diagnosis of TSC-related epilepsy disorder are invited to participate in this study. This is a 6-month double-blind clinical trial consisting of 7 in-person visits at Boston Children’s Hospital with up to 6 phone calls with the study doctor between visits. There is an optional one year open-label extension following the first 6 months to continue receiving treatment with ganaxolone.
Travel and hotel stay (if needed) will be arranged and paid for by the Travel Concierge on behalf of the Sponsor at no cost to participants. In addition, participants will be reimbursed for meals and all other out of pocket expenses and will get a stipend for participating in the study.
| For more information, please contact: Jack Murray | Jack.Murray@childrens.harvard.edu | (617) 919-1476 |
Clinicians at Boston Children’s Hospital are trying to find out how we can improve the symptoms of Tuberous Sclerosis Complex (TSC)-related epilepsy disorder. We are conducting this study to see if an investigational medication called basimglurant is safe and effective (whether it works as intended). We are enrolling children or adults who are 5-30 years old with a diagnosis of TSC-related epilepsy disorder are invited to participate in this study. This is an 8-month double-blind clinical trial consisting of 7 in-person visits at Boston Children’s Hospital with up to 16 phone calls with the study doctor between visits. The study has a “crossover” design so that everyone in the study receives either basimglurant or placebo for 12 weeks, and then switches to the opposite treatment for 12 weeks. There is an optional one year open-label extension following the first 8 months to continue receiving treatment with basimglurant.
Travel and hotel stay (if needed) will be arranged and paid for by the Travel Concierge on behalf of the Sponsor at no cost to participants. In addition, participants will be reimbursed for meals and all other out of pocket expenses and will get a stipend for participating in the study.
| For more information, please contact: Jack Murray | Jack.Murray@childrens.harvard.edu | (617) 919-1476 |