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 Details — Status: Recruiting

Administrative data

• NCT number: NCT04941027
• Other study ID #: 53000
• Secondary ID: MZ-0053000SPO: 2
• Status: Recruiting
• Start date: May 7, 2021
• Est. completion date: June 30, 2024

Study information

• Verified date: February 2024
• Source: Stanford University
• Contact: Katya Vera, BA
• Phone: 2096130263
• Email: katvera[@]stanford.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: June 30, 2024
• Est. primary completion date: June 30, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 40 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Neurofibroma
• Neurofibromatoses
• Neurofibromatosis 1

Locations

Country	Name	City	State
United States	Johns Hopkins University School of Medicine	Baltimore	California
United States	Stanford University	Redwood City	California

Sponsors (3)

Lead Sponsor	Collaborator
Stanford University	Johns Hopkins University, University of California, San Francisco

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Determination of genetic variants associated with clinical presentations of NF1.	GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.	Day 1