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

Study Status: RECRUITING
Recruit Status: RECRUITING
Study Type: OBSERVATIONAL

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

Brief 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.

Detailed Summary:
Sponsor: Stanford University

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

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

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Stanford University

Dates:
Date Received: June 18, 2021
Date Started: May 07, 2021
Date Completion: January 31, 2024
Last Updated: September 20, 2023
Last Verified: September 01, 2023