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

Neurofibromatosis 1 Clinical Trial

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

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT04941027
Study type Observational [Patient Registry]
Source Stanford University
Contact Katya Vera, BA
Phone 2096130263
Email katvera@stanford.edu
Status Recruiting
Phase
Start date May 7, 2021
Completion date June 30, 2024
View Details
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