“Natural history” is the scientific terminology that comprehensively describes the pathophysiologic course of a disease as it progresses without treatment. Natural history studies provide information concerning biomarkers, genetic, and environmental factors that can be correlated to identify how and when a disease may progress or go into remission. Because disease affects different people differently, scientists must carefully observe the natural history of a disease many times before affecting treatment. This presents a daunting challenge in the study of rare diseases.
An advocacy group for patients with Von Hippel Lindau disease recently collaborated with the National Organization for Rare Diseases (NORD) to create an online tool enabling these patients to enter information about their disease such as symptoms, progression, and their experiences, into an online database. Von Hippel Lindau disease predisposes patients to benign and malignant tumors and is characterized by numerous debilitating symptoms. Patients can enter natural history information into the database throughout their lives.
The new tool protects personal information and security while making information available to researchers, drug developers, and healthcare professionals. Importantly, the same concepts and technology can be applied to other rare diseases, and other natural history databases are under development for additional rare disease. The FDA encourages the use of these databases and supports patient advocacy groups and other organizations in the use and development of natural history collection tools for research into rare disease treatments.