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

Completed

Conditions studied: Neurofibromatosis 1

In brief

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.

Key facts

Study ID

NCT04941027

Run by

Stanford University

People needed

1046

Starts

2021-05-07

Expected to finish

2025-11-24

Last updated by the study team

2025-12-02

Who can join

Age: 40 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

Where it is running

• Johns Hopkins University School of Medicine — Baltimore, California, United States
• Stanford University — Redwood City, California, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.