TSC Matters is a bimonthly e-newsletter featuring news from the TS Alliance, TSC research updates, upcoming TS Alliance events and more! Subscribe to stay up-to-date on everything happening at the TS Alliance.
Are you an Adult with TSC or a Caregiver of an Adult with TSC?
Dr. Agnies Van Eeghen and her research team at Erasmus Medical Centre in The Netherlands are conducting a research study to develop a questionnaire to investigate the burden and restrictions experienced by adults with TSC.Read More
Phenotypic Variability in Tuberous Sclerosis Complex (TSC)
Dr. Narayanan and colleagues at the Translational Genomics Research Institute (TGen) in Phoenix, Arizona are conducting a research study aimed at identifying genetic modifiers of disease severity in TSC. For this study, we are recruiting families with children of all ages in which a parent and child both have TSC.Read More
SPARK for Autism Research Study, Boston Children’s Hospital
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.Read More
Baby Brain Imaging and Behavior Study (Baby BIBS)
Researchers at the UCLA Center for Autism Research and Treatment (CART) are looking for families who have a child less than 3 years old and is diagnosed with TSC.Read More
JASPER Early intervention for Tuberous Sclerosis
Additional Funding Available to Support Travel to Participate in an Early Intervention Study for Infants and Toddlers. Researchers from Boston and Los Angeles are studying the benefits of early behavioral intervention in infants and toddlers with TSC. Intervention is provided in person and now remotely via video conferencing. This study design allows us to include families from all over the country.Read More
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.Read More
Researcher Seeking Donation of Tissue Samples from Your Surgery
Dr. Elizabeth (Lisa) Henske’s laboratory has a new project to develop cellular models of LAM and angiomyolipomas to catalyze translational research. Please contact us if you are considering lung transplantation or any type of surgery. We are actively seeking tissue specimens from LAM, angiomyolipomas, lung transplantation, chylous fluid, uterine fibroids or tumors, or any other tissue or specimen from individuals with LAM or TSC. Please provide as much advance notice as possible so that the tissue can be properly collected. Please contact Lisa Henske at EHenske@BWH.Harvard.edu or 857-307-0782 if you are considering any type of surgery or biopsy.Read More
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated with Tuberous Sclerosis Complex (TSC)
A new clinical trial for individuals with TSC and facial angiofibromas who are 6 – 65 years old. Individuals who have used oral rapamycin/sirolimus, everolimus, or temsirolimus within 3 months of enrollment or have had laser surgery within 6 months of enrollment are not eligible to participate.Read More
Clinical Trial for Individuals Diagnosed with Tuberous Sclerosis Complex (TSC) and Cutaneous Angiofibromas
We are currently conducting a clinical trial for individuals diagnosed with TSC with facial bumps called cutaneous angiofibromas. The goal of this study is to investigate if the study drug, sirolimus, improves cutaneous angiofibromas in individuals diagnosed with TSC. The trial is sponsored by a pharmaceutical company named Aucta Pharmaceuticals, Inc, and it will involve 6 to 8 centers including Boston Children’s Hospital, Children’s Hospital of Philadelphia, Le Bonheur Children’s Hospital, Children’s Hospital Colorado, Children’s Hospital Los Angeles, and Translational Genomic Research Institute.Read More
Tuberous Sclerosis Research Opportunity – Please Help Us Better Understand Factors That Impact the Decision to Undergo Epilepsy Surgery
We have a brief survey (20 minutes) addressing caregiver satisfaction with epilepsy surgery. You are eligible if you are the caregiver of a child <18 years of age with tuberous sclerosis and had at least one epilepsy surgery. If you would like to participate, click here. For general research questions, contact Brenda Porter, MD: brenda2@Stanford.edu. For participant’s rights questions, contact 1-866-680-2906.Read More