TSC Matters

Archive for June, 2019

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.

TSC Clinic Experience of Care Survey

The TSC Alliance would like to know about your experience at the TSC Clinic you/your child go to for care.  Your comments in this online survey will be shared with the TSC Clinic Director and staff.  The 5-minute survey is anonymous – your answers will not be linked to any information that can identify you.   We invite you to complete this survey any time after you’ve been to the TSC Clinic. If you have any questions, contact Jo Anne Nakagawa at jnakagawa@tscalliance.org. Take the Survey You can also submit a TSC Clinic Comment Form directly to the TSC Alliance to share a compliment or concern...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.  In particular, we are looking for those families where the parent has little or no neurological problems (mild disease) and the child has severe neurological disease (severity assessed by scoring epilepsy and cognitive symptoms). 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. The study is expected to help identify children who will benefit from intervention very early in development when treatment is known to have the greatest impact. Participating families will receive developmental feedback reports at 1, 2, and 3 years old, close developmental monitoring of their newborn, and free early intervention if there are signs of developmental delay.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.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 3 to 8 centers including Boston Children’s Hospital, Children’s Hospital of Philadelphia and Le Bonheur Children’s Hospital.Read More

Engage Therapeutics Clinical Trial

Engage Therapeutics is a small biotech company working to improve life with epilepsy. Toward this end, they are developing an inhaler rescue therapy that stops seizures in their tracks. If you have frequent, predictably-patterned seizures, you may qualify for a paid trial of this product. Visit epilepsyhealthstudy.com.Read More