TSC Matters

Current Clinical Trials

See below for ongoing clinical trials. For a full list of clinical trials go to the Clinical Trial Finder to find a trial that may best suit your needs.

TSC MRI study

Why are we doing this study?

Researchers at Johns Hopkins are seeking participants for an MRI research study where information will be collected to develop a new non-invasive imaging technique that will help us understand the biochemical factors affecting seizure activity and cognition in TSC.

What: MRI scan to take pictures of your brain (approximately 60 minutes). For participants with TSC, a separate session of up to 2 hours for a neuropsychological test.

Who can join?

You are eligible if:

  • You are a healthy volunteer
  • You are a patient with TSC
  • You are between the ages 6-30 years old

Compensation: Participants will be compensated $50 after completion of the study.

Location of Research: Kennedy Krieger Institute (KKI), 707 North Broadway, Baltimore MD 21205

To learn more information about this study, contact Mehreen Nabi at tsc-mri@jh.edu.

COVID-19 study

The TSC Alliance seeks to contact individuals with TSC who had COVID-19 infection to collect information in the TSC Natural History Database. TSC researchers will be using this information to help determine how medications such as everolimus (Afinitor®, Zortress®) or sirolimus (Rapamune®) and TSC conditions affect the risk of getting COVID-19 and its severity.

If you or a family member with TSC had COVID-19 confirmed by testing, please consider participating in the TSC Alliance TSC Natural History Database. The TSC Alliance and the TSC Clinics listed below are collecting this information.

State TSC Clinic Principal Investigator
AL University of Alabama Birmingham E. Martina Bebin, MD, MPA
CA Loma Linda University Medical Center Stephen Ashwal, MD
CA UCLA Rajsekar Rajaraman,  MD
CO Children’s Hospital Colorado Susan Koh, MD
D.C. Children’s National Medical Center William McClintock, MD
FL Nicklaus Children’s Hospital Miami Paula Schleifer, MD
IL University of Chicago James Tonsgard, MD
MA Boston Children’s Hospital Mustafa Sahin, MD, PhD
MA Herscot Center for TSC at MGH Elizabeth A. Thiele, MD, PhD
MN Minnesota Epilepsy Group Doug Smith, MD
MO Washington University St. Louis Michael Wong, MD, PhD
NY NYU Langone Medical Center Josiane LaJoie, MD
OH Cincinnati Children’s Hospital Medical Center Darcy Krueger, MD, PhD
OH The Cleveland Clinic Ajay Gupta, MD
PA The Hospital of the University of Pennsylvania Katherine Nathanson, MD
TX Texas Scottish Rite Hospital for Children Steven Sparagana, MD
TX The University of Texas Health Science Center Houston Hope Northrup, MD

Participation in the TSC Alliance TSC Natural History Database is voluntary. Please ask your TSC clinic to enroll you in the TSC Natural History Database if you are not already enrolled. If you or your loved one had COVID-19 confirmed by testing and do not go to one of the TSC Clinics listed or have questions, please contact biosample@tscalliance.org.

Alzheimer’s in TSC study

Tuberous Sclerosis Complex (TSC) is a genetic condition due to mutations in TSC1 or TSC2 commonly diagnosed in the first few years of life. Advances in TSC research has allowed TSC patients to live well beyond the age of 50. Subsequently, many TSC patients note brain function changes such as memory difficulties or problems learning new computer programs beginning in their mid-to-late 40’s. A research group at Duke University began characterizing these brain function changes in 2018. They believe that these changes may represent the early stages of a neurodegenerative condition.

These researchers are conducting a 2-year study called “Tuberous Sclerosis Complex as a novel Alzheimer’s Disease-related Tauopathy (TSART).” This study will determine if brain function changes in TSC participants represents the early stages of a neurodegenerative condition called Alzheimer’s Disease (AD). To qualify, you must be above the age of 18, were previously diagnosed with TSC and are able to complete standardized testing such as the TSC-Associated Neuropsychiatric Disorder (TAND) checklist and neuropsychological testing. These tests will be completed annually. Additionally, blood will be drawn every 6 months throughout the study period to determine if you are accumulating a protein called phosphorylated tau. Genetic testing for mutations in TSC1 and TSC2 will also be completed.

Financial support for travel and lodging expenses related to this study can potentially be reimbursed by contacting the National Organization for Rare Diseases (NORD) at 203-616-4320 or by email at tsctravel@rarediseases.org.

Family members with no brain function difficulties are also encouraged to enroll into the study as normal controls. They only ask that you donate blood every 6 months during the 2 year study period.

Please contact the Duke University research coordinator, Amy Obssi, at 919-660-3978 or email her at amy.obssi@duke.edu to further discuss the requirements for enrollment.

Biosample studies

The TSC Alliance is able to complete the consent process with you remotely via a 20-minute phone call and schedule a biosample collection at your convenience. To schedule your consent phone call, please click here or email biosample@tscalliance.org.

Dr. David Kwiatkowski at the Brigham & Women’s Hospital in Boston Seeks 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.

Early Intervention and Autism trials

Baby Talk in TSC

Why are we doing this study?

Our team is investigating how TSC impacts a baby’s speech. The study is focused on examining the vocalizations and early language of infants with TSC.

What: In this study, we will obtain and analyze recordings of your child’s babbling and speech. The majority of the recordings will be obtained in your home using a small recorder placed in your child’s clothing (home recordings). In some cases, recordings will be obtained in an office/laboratory setting either at the University of Memphis or at Le Bonheur Children’s Hospital. We will also give speech and language tests, ask you to complete developmental questionnaires, and we will analyze neurodevelopmental tests that are often completed as a part of clinical care for TSC.

Who: Your child must be a newborn to 36 months old.

Please contact us if you’re interested in participating in our study, please contact Study Coordinator Lauren Davis by phone at 901-287-4594 or by e-mail: Lauren.davis2@lebonheur.org.

SPARK for Autism Research Study

Boston Children’s Hospital would like to invite individuals of all ages diagnosed with autism as well as their family members to join SPARK!  SPARK, sponsored by the Simons Foundation Autism Research Initiative, has the mission of speeding up research and advancing understanding of autism by building the nation’s largest autism study!    Registration and information can be found online at www.SPARKforAUTISM.org/BCH.   Individuals with autism will receive gift cards valued at up to a total of $50 for participation. By dramatically increasing the number of research participants, SPARK aims to help facilitate research that has not yet been possible.

Questions? Contact the SPARK team at Boston Children’s Hospital at: SPARK@childrens.harvard.edu or call (617) 355-8300.

The Learning Brain Study at Boston Children’s Hospital

Researchers at Boston Children’s Hospital are currently enrolling kids ages 2-12 with a diagnosis of TSC to participate in The Learning Brain Study!

In collaboration with MIT, 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, they aim to improve identification methods for children with TSC and other neurodevelopmental disorders.

Participation includes three consecutive visits (20-30min each) to the Labs of Cognitive Neuroscience at Boston Children’s Hospital. Visits will consist of safe and non-intrusive methods of brain activity measurements.

Participants receive $50 as a thank you for your time. Boston Children’s Hospital also provides free parking, childcare, and can cover travel and accommodation costs.

Please email learningbrainstudy@childrens.harvard.edu or call (617) 893-3749 for more information.




Transition Readiness survey

Dr. Amy Paller and Northwestern University/Ann & Robert H. Lurie Children’s Hospital of Chicago would like to invite you to participate in a research study on the readiness to transition to an adult model of health care. This study involves completion of an online survey and more information can be found below.

If you are a parent/caregiver of or an adolescent between 14 and 22 years old with tuberous sclerosis or another genetic chronic skin condition, please consider participating in our survey study on transition readiness.

The survey is for the adolescent to take themselves. A parent/caregiver can help the adolescent with explaining questions but cannot answer questions.

This study is Lurie Children’s IRB #2021-4393, Transition Readiness Assessment in Adolescents with Genetic Chronic Skin Disorders, Dr. Amy Paller. The content of this flier has been approved by the Lurie Children’s IRB.