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

Last updated: November 25, 2025
Sponsor: Stanford University
Overall Status: Completed

Phase

N/A

Condition

Brain Tumor

Warts

Treatment

N/A

Clinical Study ID

NCT04941027
53000
MZ-0053000
SPO: 200898
  • Ages > 40
  • All Genders

Study 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 Criteria

Inclusion

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.

Study Design

Total Participants: 1046
Study Start date:
May 07, 2021
Estimated Completion Date:
November 24, 2025

Connect with a study center

  • Stanford University

    Redwood City, California 94063
    United States

    Site Not Available

  • Johns Hopkins University School of Medicine

    Baltimore, California 5332921 21218
    United States

    Site Not Available

  • Stanford University

    Redwood City 5386834, California 5332921 94063
    United States

    Site Not Available

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