Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults with Neurofibromatosis Type 1
- Conditions
- Neurofibromatosis 1
- Registration Number
- NCT04941027
- Lead Sponsor
- Stanford University
- Brief Summary
The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 1000
- Age 40 or older.
- NF type 1 diagnosed using clinical criteria.
- At least one neurofibroma present at time of enrollment.
- Patient able to read and understand consent form (or equivalent translation) and able to give consent.
- Patient able and willing to complete all study procedures.
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Determination of genetic variants associated with clinical presentations of NF1. Day 1 GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (2)
Johns Hopkins University School of Medicine
🇺🇸Baltimore, California, United States
Stanford University
🇺🇸Redwood City, California, United States