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

Recruiting

• Conditions: Neurofibromatosis 1

• Registration Number: NCT04941027
• Lead Sponsor: Stanford University

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 Description

Not available

Study Timeline

• Study Start: 2021-05-07
• Study First Submitted: 2021-06-18
• Study First Submitted QC: 2021-06-18
• Study First Posted: 2021-06-28
• Status Verified: 2024-11
• Last Update Submitted: 2024-11-26
• Last Update Posted: 2024-12-02
• Primary Completion: 2025-09-30
• Study Completion: 2025-09-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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.

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Determination of genetic variants associated with clinical presentations of NF1.	Day 1	GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.

Trial Locations

Locations (2)

Johns Hopkins University School of Medicine; 🇺🇸 Baltimore, California, United States

Stanford University; 🇺🇸 Redwood City, California, United States