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Observational Study for Neurofibromatosis Type 1 (NF1) Nerve Tumors

This study is looking at people with Neurofibromatosis Type 1 (NF1), a genetic condition that can cause tumors on nerves. While most of these tumors are not cancerous, some can become cancerous. Researchers want to find a better way to predict which tumors might turn cancerous. They will be using a new method to identify specific changes in tumors, including certain biomarkers (biological markers like genes or proteins) called CDKN2A and NF1, and mechanisms (how things work in the body) related to CDK. The goal is to see if this method can successfully identify tumors that are at higher risk of becoming cancerous. You may be able to join if you are 3 years or older and have an NF1 diagnosis.

Study design
This is an observational study, meaning participants will be monitored without receiving a specific intervention. The study plans to enroll 225 participants.
What's involved
Participants will have their medical history reviewed, a baseline visit, blood tests, imaging scans, and a physical exam.
Compensation
Not stated in the trial record.
Follow-up
The primary goal of assessing the study algorithm's feasibility will be measured throughout the study.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06222203

Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)

Recruiting
Not specifiedAges 3+Observational
National Cancer Institute (NCI)
~225 participants
Updated 2026-09-01 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Assess feasibility of the study algorithm in identifying atypical neurofibromas (ANs), atypical neurofibromatous neoplasms of unknown biologic potential (ANNUBPs), CDKN2A/B mutated lesions, and/or malignant peripheral nervous sheath tumors (MPNS...
Measured over Throughout the study

Conditions

Neurofibromatosis 1
Nerve Sheath Neoplasms

Explore related trials

Neurofibromatosis Type 1Peripheral Nerve Sheath TumorsPlexiform Neurofibroma

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Brigitte C Widemann, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

Jennifer E Derise
[email protected]
(240) 575-8520
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Age \>= 3 years old
Participants with clinical or genetic diagnosis of NF1.
Participants with a diagnosis of mosaic or segmental NF1 are also eligible.
Individuals may have (High-Risk Cohort) or not have (Low-Risk Cohort) at least one of the following characteristics:
Microdeletion or 844-848 missense variants or other variants associated with increased risk of malignant peripheral nervous sheath tumor (MPNST)
Family history of MPNST / atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) / atypical neurofibromas (ANF)
Personal history of MPNST/ANNUBP/ANF or neurofibroma with CDKN2A/B loss
Prior radiation therapy at any site
Large plexiform neurofibroma (PN) burden (\>= 350 mL)
Presence \>= 1 DNL at baseline
The ability of the individual, parent/guardian or Legally Authorized Representative (LAR) to understand and the willingness to sign a written consent document for participation.
Parent or guardian of pediatric individuals (8-17 years old) in High-Risk or Low-Risk Cohorts.
The ability of the parent/guardian or LAR to understand and the willingness to sign a written consent document for parent/guardian participation in this study.

What this trial measures

  • Assess feasibility of the study algorithm in identifying atypical neurofibromas (ANs), atypical neurofibromatous neoplasms of unknown biologic potential (ANNUBPs), CDKN2A/B mutated lesions, and/or malignant peripheral nervous sheath tumors (MPNS...Throughout the study

    Proportion of lesions that undergo surgical intervention (biopsy or resection) that are ANs, ANNUBPs, CDKN2A/B mutated lesions and/or MPNST