TY - JOUR
T1 - Development of an international internet-based neurofibromatosis Type 1 Patient registry
AU - Johnson, Kimberly J.
AU - Hussain, Ibrahim
AU - Williams, Katherine
AU - Santens, Ryan
AU - Mueller, Nancy L.
AU - Gutmann, David H.
N1 - Funding Information:
Grant support: American Cancer Society Institutional Research Grant , Alex's Lemonade Stand Foundation for Childhood Cancer Research , St. Louis Children's Hospital Foundation .
PY - 2013/3
Y1 - 2013/3
N2 - 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.
AB - 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.
KW - Genetic syndrome
KW - Internet
KW - Neurofibromatosis type 1
KW - Online
KW - Rare disease
KW - Registry
UR - http://www.scopus.com/inward/record.url?scp=84872690231&partnerID=8YFLogxK
U2 - 10.1016/j.cct.2012.12.002
DO - 10.1016/j.cct.2012.12.002
M3 - Article
C2 - 23246715
AN - SCOPUS:84872690231
SN - 1551-7144
VL - 34
SP - 305
EP - 311
JO - Contemporary Clinical Trials
JF - Contemporary Clinical Trials
IS - 2
ER -