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

a study on Neurofibromatosis

Summary

Eligibility
for people ages 40 years and up (full criteria)
Location
at UCSF
Dates
study started
completion around

Description

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.

Keywords

Neurofibromatosis 1, Neurofibromatoses, Neurofibroma

Eligibility

For people ages 40 years and up

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

  • Stanford University accepting new patients
    Redwood City California 94063 United States
  • Johns Hopkins University School of Medicine accepting new patients
    Baltimore California 21218 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Stanford University
ID
NCT04941027
Study Type
Observational [Patient Registry]
Participants
Expecting 1000 study participants
Last Updated