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

Stanford University1,046 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

1,046

Conditions

Neurofibromatosis 1

Eligibility

Sex: ALLMin age: 40 Years

Medical Language ↔ Plain English

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.

Locations (2)

Johns Hopkins University School of Medicine

Baltimore, California, United States

Stanford University

Redwood City, California, United States

Outcomes

Primary Outcomes

Determination of genetic variants associated with clinical presentations of NF1.

GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.

Time frame: Day 1

Data from ClinicalTrials.gov

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