Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Ne… (NCT06222203) | Clinical Trial Compass
RecruitingNot Applicable
Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)
United States225 participantsStarted 2024-10-09
Plain-language summary
Background:
Neurofibromatosis type 1 (NF1) is a genetic disease that can cause many symptoms. About half of people with NF1 will develop benign (noncancerous) tumors along nerves in the skin, brain, and other parts of the body. Sometimes, though, these tumors can become cancerous. Researchers do not yet know how to predict which tumors will become cancerous.
Objective:
To test a new method for predicting which benign NF1 tumors will become cancerous.
Eligibility:
People aged 3 years and older with a clinical or genetic diagnosis of NF1.
Design:
* Participants will be screened with a review of their medical history. All participants will have a baseline visit. They will have bood tests and imaging scans. They will have a physical exam. They will answer questions about their family history. Participants aged 8 years and older will take tests of their thinking skills and their emotional health.
* Some participants may be asked to undergo more tests. These may include another type of imaging scan and a biopsy: A small sample of tissue may be removed from the tumor.
* Participants will be divided into two groups: those believed to be at low risk and those believed to be at high risk of developing cancer.
* Participants in the high-risk group will be asked to return for their next visit in 1 month to 3 years.
* Participants in the low-risk group will be asked to return for their next visit in 6 months to 5 years.
* Participants may also have follow-up visits by phone throughout the study. They will be in the study for 10 years.
Who can participate
Age range
3 Years – 120 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* INCLUSION CRITERIA:
High-Risk and Low-Risk NF1 Cohorts
* 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 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.
EXCLUSION CRITERIA:
High-Risk and Low-Risk NF1 Cohorts
\- Inability or unwillingness to undergo MRI imaging
INCLUSION CRITERIA:
Parent Cohort
* 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.
EXCLUSION CRITERIA:
Parent Cohort
\- None.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
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...