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Studies about Tuberous Sclerosis Complex (TSC)

If you are interested in participation in any of these studies, please contact us at ResearchTNC@childrens.harvard.edu.


Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex

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 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 visits over a two year period. Visits involve a blood draw, physical and neurological exam and developmental testing.


Tuberous Sclerosis Complex (TSC) Natural History Database Project

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.


Tuberous Sclerosis Complex (TSC) Biosample Repository Project

Are you or your child with TSC enrolled in the TSC Natural History Database? The Tuberous Sclerosis 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.


Marinus CALM: Clinical Trial of Ganaxalone in TSC

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 with a diagnosis of TSC-related epilepsy disorder are invited to participate in this study. This will be about a 10.5 months clinical trial consisting of 8 of the visits at Boston Children’s Hospital with up to 10 phone calls with the study doctor between visits

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.


Aucta: Clinical Trial of Topical Sirolimus for Facial Angiofibromas in TSC

We want to learn more about the safety and effectiveness of an investigational study ointment called sirolimus (rapamycin) to treat facial angiofibromas in children and adolescents with tuberous sclerosis complex (TSC).

The study may be a good fit for your child if: your child has a diagnosis of TSC, has facial spots or bumps, or is between 2-18 years old.

If your child takes part in this research study, he/she will: Have four study visits and two phone visits across 4 months, be given a cream to put on the face once a day before going to bed, have TSC symptoms monitored, have facial spots or bumps examined, have blood samples collected for laboratory testing, be offered opportunity to join open-label portion of study with sirolimus ointment at no cost at end of first 3 months.


JASPER Early intervention for Tuberous Sclerosis

Researchers from Boston and Los Angeles are studying the benefits of early behavioral intervention in infants with Tuberous Sclerosis Complex (TSC). Intervention is provided in person AND remotely via video conferencing.

Your child will receive: Developmental assessments, free play-based intervention, and a report of the results from the developmental assessments. You will receive: Compensation for travel costs and one night’s hotel stay. Your child may be eligible to participate if: He/she is 12-36 months of age, has a clinical diagnosis of TSC, and cant travel to UCLA or BCH 6 times over 15-21 months.

For more information please contact: Carly Hyde, study coordinator JETSstudy@gmail.com 310-825-8738.


The Learning Brain Study

Researchers at Boston Children’s Hospital are currently enrolling kids ages 2-12 with a diagnosis of TSC to participate in a new research study! The goal of the study is to further understand how the brain changes as it learns. By gaining insight into how the brain changes with experience, we aim to improve identification methods for children with TSC & other neurodevelopmental disorders.

Participation included: Three consecutive visits to the Labs of Cognitive Neuroscience at BCH. Visits will consist of safe and non-intrusive methods of brain activity measurement

Participating Families Receive: Free parking, travel/accommodation costs, childcare for other siblings, payment of up to $50. For More Information: (617) 919 7610 | learningbrainstudy@childrens.harvard.edu