Characteristics and Burden of Subependymal Giant Cell Astrocytomas (SEGAs) in Patients with Tuberous Sclerosis Complex: Results of a Patient and Caregiver Survey

OBJECTIVE: This analysis focuses on the prevalence, presentation, and management of SEGAs. BACKGROUND: Patients with tuberous sclerosis complex (TSC), a genetic disorder characterized by benign tumor growth in multiple organs, may experience tumor growth in the ventricular system known as subependymal giant cell astrocytomas (SEGAs). This analysis aims to assess the prevalence, presentation, and associated burden of SEGAs in patients with TSC in the United States (US). DESIGN/METHODS: An Institutional Review Board-approved Web-based survey of US TSC patients and caregivers obtained information on prevalence of different TSC manifestations, their treatment and management, and the clinical and health-related quality of life (HRQL) burden on patients and caregivers. RESULTS: Of 676 TSC survey respondents, 116 (17%) were patients diagnosed with SEGAs. Of TSC survey respondents reporting diagnosis of SEGAs, 38% were TSC patients and 62% were caregivers of TSC patients. Mean age of TSC-SEGA patients was 25.5 years (median: 23.5). The mean age at which SEGA patients were diagnosed with TSC was 21.2 years (median: 25.0). TSC-SEGA patients also experienced seizures (65%), skin lesions (72%), and subependymal nodules (SENs) (43%). Almost 47% of TSC-SEGA patients reported having brain surgery; 22% reported having brain surgery for SEGA. Patients with SEGAs were most often diagnosed with TSC by a neurologist (37%), pediatrician (9%) or dermatologist (8%). 42% of patients with SEGAs were admitted at least once to the hospital while 39% went to the ER at least once in the past year. The majority of TSC-SEGA patients (64%) live more than 100 miles from a TSC clinic with nearly half (49%) of TSC-SEGA patients receiving medical care at a TSC clinic. CONCLUSIONS: Survey data demonstrate that TSC-SEGA is associated with significant clinical burden. Supported by: Novartis. Disclosure: Dr. Dunn has received research support from Eli Lilly & Company, Supernus, and GlaxoSmithKline, Inc. Dr. Rentz has received personal compensation for activities with United BioSource Corporation as an employee. Dr. Rentz has received research support from United BioSource Corporation. Dr. Skalicky has received personal compensation for activities United BioSource Corporation (UBC). Dr. Skalicky has received research support from United BioSource Corporation (UBC). Dr. Pelletier has received personal compensation for activities with Novartis Pharmaceuticals as an employee. Dr. Liu has nothing to disclose. Dr. Prestifilippo has nothing to disclose. Dr. Nakagawa has nothing to disclose. Dr. Frost has received personal compensation for activities with Lundbeck/Novartis. Dr. Frost has received research support from Novartis, Lundbeck, and UCB. Dr. Wheless has received personal compensation for activities with NIH, Shainberg Foundation, GlaxoSmithKline, Inc., Lundbeck, Questcor, Cyberonics, Pfizer, Inc, and Eisai Inc. Dr. Wheless has received research support from Abbott, Cyberonics, Ortho-McNeil, Novartis, UCB Pharma, and Ovation. Dr. Pashos has received personal compensation from United BioSource Corporation and Novartis. Dr. Pashos has received research support from United BioSource Corporation.