Natural History Study of Cutaneous Neurofibromas in People With NF1

NCT05581511 | Active Not Recruiting DMC

• 1 other identifier: IRB00272137
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Neurofibromatosis Type 1; Neurofibromatosis 1; Neurofibromatosis (Nonmalignant); Cutaneous Neurofibroma

Keywords

neurofibroma; cutaneous neurofibroma; neurofibromas; cutaneous neurofibromas; skin neurofibromas; dermal neurofibromas; neurofibromatosis; neurofibromatosis type 1; neurofibromatosis 1; von Recklinghausen syndrome; von Recklinghausen disease; NF1

Outcome Measures

Primary Outcomes (2)

• Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1).

  To characterize the baseline tumor burden of cNFs

  Baseline

• Change in number of cNFs

  Change in number of cNFs once per year over five years.

  Once per year over 5 years

Secondary Outcomes (1)

• To characterize the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype.

  2 years

Interventions

Evaluation of the natural history of cutaneous neurofibromas OTHER

Cutaneous neurofibromas (cNFs) are the most common tumors in people with neurofibromatosis type 1 (NF1). Despite their benign histology, they can significantly impact patients' quality of life (QoL). In this project, the natural history of cNFs will be prospectively and systematically studied. To accomplish this, the reproducibility and efficiency of using 3D whole-body photography was evaluated in a small cohort of patients. The study is enrolling patients of all ages with cNFs into groups by epochs of life to characterize the baseline tumor burden and the change in number and morphology of cNFs over five years. In addition, the study will perform next generation sequencing to describe the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype. Lastly, the study will validate clinician- and patient-reported severity scales of cNFs developed for this patient population.

Eligibility Criteria

• Age: 1 Year - 100 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

People of all ages with NF1

You may qualify if:

• 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.

You may not qualify if:

• Concurrent experimental or off label use of therapies for cNF

Sponsors & Collaborators

• Johns Hopkins University: lead
• Neurofibromatosis Therapeutic Acceleration Program: collaborator

Study Sites (1)

Johns Hopkins University

Baltimore, Maryland, 21287, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Optional donations of blood and cutaneous neurofibroma are accepted

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibromatoses; Neurofibroma

Condition Hierarchy (Ancestors)

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; Peripheral Nervous System Neoplasms; Nervous System Neoplasms

Study Officials

• Carlos G Romo, MD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 12, 2022
• First Posted: October 14, 2022
• Study Start: June 28, 2021
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): June 30, 2029
• Last Updated: October 14, 2025

Record last verified: 2025-10

Locations

US (1)