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

NCT04941027 | Completed

• 3 other identifiers: 53000MZ-0053000SPO: 200898
• Study Type: observational
• Target: 1,046
• Locations: 1 country
• Sites: 2

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.

Conditions

Neurofibromatosis 1

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 40 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

Sponsors & Collaborators

• Stanford University: lead
• Johns Hopkins University: collaborator
• University of California, San Francisco: collaborator

Study Sites (2)

Johns Hopkins University School of Medicine

Baltimore, California, 21218, United States

Location

Stanford University

Redwood City, California, 94063, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Saliva samples will be collected from patients for genetic sequencing.

MeSH Terms

Conditions

Neurofibromatosis 1

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Kavita Sarin, MD PhD

  Stanford University

  PRINCIPAL INVESTIGATOR

• Jaishri Blakely, MD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

• Carlos Romo, MD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Medicine

Study Record Dates

• First Submitted: June 18, 2021
• First Posted: June 28, 2021
• Study Start: May 7, 2021
• Primary Completion: September 30, 2025
• Study Completion: November 24, 2025
• Last Updated: December 2, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Data will be available as generated indefinitely.
• Access Criteria: Data will be shared through secure REDCap database.

Locations

US (2)