Development of an international internet-based neurofibromatosis Type 1 patient registry

Internet technology provides unprecedented opportunities to assemble large numbers of individuals with rare diseases from across the world to conduct clinical research studies. One such rare disease is Neurofibromatosis Type 1 (NF1), a cancer predisposition syndrome affecting ~1/3000-4000 individuals worldwide. To enable large epidemiological research studies on NF1, we developed an online NF1 Patient Registry Initiative (NPRI) (https://nf1registry.wustl.edu/). Our objective is to describe the methods for registry development and implementation as well as the characteristics of participants during the first year of registry operation. Following electronic consent, participants completed a 30-45 minute questionnaire with 11 sections that asked about demographic, health, and social information. During the first year, 308 individuals from 44 U.S. states, the District of Columbia, and 19 countries participated. Of these, 98% provided demographic information and ~85% completed all questionnaire sections, of which 95% reported the presence of at least two NF1 diagnostic criteria. Most participants who completed the questionnaire indicated willingness for future contact (99%) and for providing biological samples (94%). Based on this first year of experience, we conclude that online registries provide a valuable tool for assembling individuals with a rare disease from across the world for research studies.