Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults with Neurofibromatosis Type 1
Status: Recruiting
Location: See all (2) locations...
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 40
Healthy Volunteers: f
View:
• 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.
Locations
United States
California
Johns Hopkins University School of Medicine
RECRUITING
Baltimore
Stanford University
RECRUITING
Redwood City
Contact Information
Primary
Mahrukh Abdullah, BA
mahrukh@stanford.edu
650-743-8949
Time Frame
Start Date: 2021-05-07
Estimated Completion Date: 2025-09-30
Participants
Target number of participants: 1000
Authors
Related Therapeutic Areas
Sponsors
Leads: Stanford University
Collaborators: Johns Hopkins University, University of California, San Francisco