NF1 Patient Registry Initiative

NPRI- NF 1 Patient Registry Initiative- Washington University Neurofibromatosis Center/ St. Louis Children's Hospital- NF1

 

Participate in the NF1 Patient Registry Initiative (NPRI)

The NF1 Patient Registry Initiative (NPRI) is a unique internet-based database that collects medical information from individuals with NF1. Developed by researchers in the Washington University NF Center, the NPRI is designed to help physicians and researchers better understand the spectrum of medical problems found in children and adults with NF1.

 

NPRI world map 5.12.2014
NPRI USA map 5.12.2014

 

About the NPRI

To date, over 1,500 individuals with NF1 from around the globe have participated in the NPRI. The information collected by the NPRI is being used to better characterize the relationships between specific problems in NF1 including, cancer, heart problems, allergies, depression and learning disabilities.

Researchers are working to identify individuals with NF1 at greatest risk to develop specific medical problems which may help clinicians to develop personalized treatment strategies that improve the quality of life for individuals living with NF1.

 

Participating in the NPRI

All individuals with a diagnosis of NF1 are invited to participate in the NPRI. Participation includes completing a 30-minute online questionnaire.

Yearly reminders are sent to participants allowing them to update their health information.

To protect all participants, health information collected is stored using secure servers at the Washington University School of Medicine.

 

Publications

Johnson KJ, Mueller NL, Williams K, Gutmann DH. Evaluation of participant recruitment methods to a rare disease online registry. Am J Med Genet A. (in press)

Johnson KJ, Hussain I, Williams K, Mueller NL, Gutmann DH. Development of an international internet-based neurofibromatosis type 1 patient registry. Contemp Clin Trials. 34: 305-11, 2013.

Johnson KJ, Fisher MJ, Listernick RL, North KN, Schorry EK, Viskochil D, Weinstein M, Rubin JB, Gutmann DH. Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Fam Cancer. 4: 653-6, 2012.