Associate Professors Lyndsay Harshman – UI Carver College of Medicine, Amber Goedken - UI College of Pharmacy, and Clinical Associate Professor Knute Carter – UI College of Public Health have received a U.S. Department of Defense - Congressionally Directed Medical Research Programs grant to explore tuberous sclerosis complex (TSC). Harshman is principal investigator, while Goedken and Carter are co-investigators. The project, titled “Women’s health in tuberous sclerosis complex: a population-based assessment of morbidity to inform clinical care,” is $498,400 across three years.

“Many unanswered questions remain regarding health outcomes in women with TSC, particularly those in their childbearing years. We are excited to use two large real-world databases representing women with this rare disease from throughout the United States to generate new knowledge about kidney and lung-related imaging and outcomes in this population,” said Goedken.

Deadly Disease
In the United States up to 40,000 women have TSC, and the worldwide estimate for women with TSC is one million. TSC is a multi-system genetic disease that is often diagnosed in early childhood and is characterized by complications arising throughout the lifespan. Invariably these patients develop benign but locally invasive tumors in the kidneys and lungs, and risk of developing similar types of tumors in other organs and tissues during their lifetime is high.

While standard-of-care pulmonary and renal screening using computerized tomography and magnetic resonance imaging, respectively, provides an opportunity for early detection of the life-threatening vascular tumors, Harshman and Goedken previously have published epidemiological work suggesting significant gaps or lapses in standard of care surveillance for this population.

Real-World Data
The team will use the grant to leverage 2001-2022 administrative claims and electronic medical records data from MarketScan® and TriNetX® national databases to:

• Determine real-world patterns of renal and pulmonary imaging in the United States TSC population with a focus on patterns of imaging among women with TSC 
• Ascertain the relationship between imaging occurrence and clinical outcomes specific to women with TSC