Project Summary

What Is the Research About?

Neurofibromatosis 1 (NF1) is a genetic disorder that affects approximately 1 in 3,000 people and predisposes individuals to develop a range of medical issues requiring regular screening and monitoring, such as nerve tumors, scoliosis and learning disabilities. However, many NF1 patients don’t get recommended health surveillance like annual neurologic exams, blood pressure checks and scoliosis screening. In fact, 87 percent of NF1 patients in the United States do not go to specialty NF clinics; these people are less likely to get recommended annual evaluations and are more likely to live in rural areas and have lower household income. Programs to increase evidence-based NF1 health surveillance in primary care could these reduce these health disparities.

This study will compare two ways to increase guideline-recommended health surveillance for children and adults with NF1. The first way is an online platform that delivers personalized, guideline-based recommendations to patients/parents and their primary care physicians (PCPs). The second way is noncustomized, general reminder notices about NF1 guidelines for patients/parents and their PCPs.

Who Can This Research Help?

People with NF1 and their parents can use findings from this study to decide whether to use the new online platform for their/their child’s care. Health care administrators and rare disease advocacy organizations can also use the findings to decide whether to invest in adapting the online platform for other rare diseases.

What Is the Research Team Doing?

The research team will enroll 178 adults with NF1 and 116 parents of children with NF1 who speak English or Spanish and have not been to a NF1 specialty clinic in the past three years. Study participants will be recruited from an international online NF registry, nine NF advocacy organizations across the United States, NF1 groups on social media and targeted online advertising. The research team will assign adult patients and parents of pediatric patients by chance to one of two groups. One group will get immediate access to NF Guidelines to You, which includes personalized, detailed letters to them and their PCPs about the care they need. The other group will get generic reminders for them and their PCPs about the importance of annual NF1 check-ups and a link to published NF1 guidelines. Two weeks after their PCP visit, the research team will send adult patients and parents an online survey to compare the number of guideline-recommended NF1 evaluations that were completed at their/their child’s PCP visit, out of six evaluations per group: neurologic exam, skin exam, blood pressure check and scoliosis screening for all patients; assessment of developmental milestones/school progress and pubertal development in children under age 18; and education about malignant peripheral nerve sheath tumors and family planning in adults 18 or older.

The research team will also compare patients’/parents’ satisfaction with the PCP visit and changes in patients’/parents’ self-efficacy in managing their/their child’s NF1 care. In addition, the research team will send surveys to everyone who used NF Guidelines to You and interview a subset of adult patients, parents and PCPs who used the platform to get more in-depth information about their experiences.

The research team is working with NF1 patients and parents, PCPs, NF1 medical experts and NF advocacy organizations from across the United States to help design NF Guidelines to You, conduct the study and disseminate the results.

Project Information

Scott Plotkin, MD, PhD
Vanessa Merker, PhD
Massachusetts General Hospital

Key Dates

36 months
March 2023


Award Type
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: October 18, 2023