TSC Matters

Archive for the ‘Ongoing TSC Clinical Trials’ Topic

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

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

JASPER Early intervention for Tuberous Sclerosis (Valid through September 2021) – Modified to Include Video-Based Intervention

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. Where: Assessments will take place at UCLA and Boston Children’s Hospital. 4 intervention sessions will take place at the study sites, the rest will occur in your home, through video conferencing. Principal Investigators: This NIH funded study is led by Shafali Jeste, MD. (UCLA), Connie Kasari, Ph.D. (UCLA), Charles A. Nelson, Ph.D. (Boston Children’s Hospital) and... 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.  For more information go to ClinicalTrial.gov. 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

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