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.