Clinical trial readiness through longitudinal disease reconstruction in TBC1D24-related disorders
Awardee: Jillian McKee
Institution: University of Pennsylvania/ Children's Hospital of Philadelphia
Grant Amount: $26,962.00
Funding Period: February 1, 2024 - January 31, 2025
Summary:
The proposed research aims to understand the diverse clinical landscape and create a timeline of the likelihood of different clinical features in TBC1D24-related disorders across the lifespan. Data previously published in the literature and extracted from electronic medical records at our large academic medical center will be combined with medical records obtained from the TBC1D24 Family Foundation. Our goal is to understand the natural history and genetic basis of varying disease courses in TBC1D24-related disorders to improve clinical care. We hypothesize that we can identify previously unknown subgroups, disease trajectories, and medication responses that will allow us to predict patient outcomes more precisely, choose appropriate medical treatment strategies, and inform clinical trial design.