Natural History Study of Cutaneous Neurofibromas in People With NF1 (cNF Natural Hx)

October 9, 2025 updated by: Johns Hopkins University

Natural History Study of Cutaneous Neurofibromas in People With Neurofibromatosis Type 1

People diagnosed with NF1 may develop cutaneous neurofibromas, also known as cNFs. These benign tumors can cause discomfort and affect a person's quality of life. Researchers at Johns Hopkins are studying how cNF tumors form, grow and change over time. This information may help doctors in the future, provide early interventions and improve quality of life for NF1 patients. Researchers will also explore a new way of monitoring cNF with 3D camera technology. People of all ages with NF1, living in the United States, are invited to participate in this important research study.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Other: Evaluation of the natural history of cutaneous neurofibromas

Detailed Description

The majority of people diagnosed with Neurofibromatosis Type 1 are likely to develop at least one cutaneous neurofibroma-also known as cNF. While benign, these tumors can cause pain, itchiness, disfigurement, and dramatically affect a person's quality of life; and little is known about how it forms and grows. A team of researchers at Johns Hopkins is studying the natural history of cNF to better understand how cNF tumors develop and change over time. This research may help doctors provide early intervention to people at risk of developing cNF, or prevent cNF altogether. And, it will help prioritize future research focused on improving the quality of life for people who have NF1

People of all ages diagnosed with NF1 are invited to participate in this research study. Participants under the age of 18 with parental consent are welcome. Participants will need to provide a saliva sample for genetic testing and NF1 gene identification. Once a year for the next five years, participants will undergo whole-body, 3D imaging. This imaging technology will generate a three-dimensional, digital image with which researchers will monitor changes in cNF over time. It does not use radiation and has no expected side effects.

Participants will need to answer annual health surveys to monitor quality of life, NF1 and cNF symptoms. Participants may also choose to donate blood and tissue samples for future NF research initiatives.

The study is open to anyone with NF1 living in the United States. Annual visits for this study will take place at the Johns Hopkins Outpatient Center in Baltimore, Maryland. There is no cost to the participants, and eligible travel and parking expenses may be reimbursed up to a specified amount. In fact, participants will receive a gift card at the first visit for participating in the study.

Study Type

Observational

Enrollment (Estimated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

United States
- Maryland
  - Baltimore, Maryland, United States, 21287
    - Johns Hopkins University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 96 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

People of all ages with NF1

Description

Inclusion criteria:

Diagnosis of NF1 based on NIH Consensus Conference clinical criteria or confirmed pathogenic NF1 mutation
Patients ages 1-100 will be eligible to participate
Ability have 3D whole-body pictures taken which entails standing still for a few seconds
Ability to provide informed consent or obtain consent from parent or legally authorized representative in the case of patients under 18 years of age who cannot consent for themselves or those with disabilities preventing them from participating in the consent process.
Participants must be able to travel to Johns Hopkins Hospital for whole-body imaging and physical exam.

Exclusion criteria:

Concurrent experimental or off label use of therapies for cNF

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Cohort
Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1). Time Frame: Baseline	To characterize the baseline tumor burden of cNFs	Baseline
Change in number of cNFs Time Frame: Once per year over 5 years	Change in number of cNFs once per year over five years.	Once per year over 5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To characterize the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype. Time Frame: 2 years	Using Next Generation Sequencing (NGS) to evaluate pathogenic variants in the NF1 gene and their relation to cNF tumor burden	2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Johns Hopkins University

Collaborators

Neurofibromatosis Therapeutic Acceleration Program

Investigators

Principal Investigator: Carlos G Romo, MD, Johns Hopkins University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 28, 2021

Primary Completion (Estimated)

December 31, 2028

Study Completion (Estimated)

June 30, 2029

Study Registration Dates

First Submitted

October 12, 2022

First Submitted That Met QC Criteria