Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1

Stanford University

Status: Completed

Conditions: Neurofibromatosis 1

Study type: Observational

Funder types: Other

Identifiers

NCT04941027

MZ-0053000 (Other Identifier)

53000

SPO: 200898 (Other Grant/Funding Number)

Details and patient eligibility

About

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.

Enrollment: 1,046 patients

Sex: All

Ages: 40+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

• 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.