Electronic Registry for Patients with Achondroplasia Across Multiple U.S. Centers Tracking Health and Treatment Outcomes Over Time

What this Trial Is About

Researchers are creating an electronic registry to collect detailed clinical information from patients with achondroplasia, a rare bone condition. Initially focused on U.S. patients, this registry aims to support research on health outcomes and treatment options by gathering data from prenatal stages through the most recent medical encounters. The registry is longitudinal, allowing for both retrospective and ongoing data entry over time. The registry is housed in a secure, web-based database called RedCap, designed for multi-site academic research collaboration. It is maintained by the Greenberg Center for Skeletal Dysplasias at Johns Hopkins and involves co-investigators from several U.S. institutions. Each co-investigator can enter and access data for their own patients, with deidentified information shared across sites to enable analysis. The goal is to enroll at least 1,500 patients and support research questions through shared data. Participants clinical data, including growth measurements and surgical history, are collected through chart reviews over a period of at least three years. The registry tracks detailed phenotypic data while protecting patient identity through password protection and data backup. This observational study allows researchers to better understand the natural history and treatment outcomes of achondroplasia by examining the collected data longitudinally.

Achondroplasia Natural History Multicenter Clinical Study