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

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.

Study Overview

• Status: Completed
• Conditions: Neurofibromatosis 1

• Study Type: Observational
• Enrollment (Actual): 1046

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 40 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Participants aged 40 or older that have been clinically diagnosed with NF1 and currently have neurofibromas present.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Stanford University
• Collaborators: Johns Hopkins University; University of California, San Francisco
• Investigators: Principal Investigator: Kavita Sarin, MD PhD, Stanford University; Principal Investigator: Jaishri Blakely, MD, Johns Hopkins University; Principal Investigator: Carlos Romo, MD, Johns Hopkins University

Study record dates

Study Major Dates

• Study Start (Actual): May 7, 2021
• Primary Completion (Actual): September 30, 2025
• Study Completion (Actual): November 24, 2025

Study Registration Dates

• First Submitted: June 18, 2021
• First Submitted That Met QC Criteria: June 18, 2021
• First Posted (Actual): June 28, 2021

Study Record Updates

• Last Update Posted (Estimated): December 2, 2025
• Last Update Submitted That Met QC Criteria: November 25, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neoplasms by Histologic Type; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Heredodegenerative Disorders, Nervous System; Nerve Sheath Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Neurofibroma; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neurofibromatoses; Neurofibromatosis 1
• Other Study ID Numbers: 53000; MZ-0053000 (Other Identifier: OnCore); SPO: 200898 (Other Grant/Funding Number: Johns Hopkins University: PRIME NTAP)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Individual participant data will be shared indefinitely with collaborators after data is deidentified.
• IPD Sharing Time Frame: Data will be available as generated indefinitely.
• IPD Sharing Access Criteria: Data will be shared through secure REDCap database.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No