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Neurofibromatosis Type 1 Tumor Early Detection Study

This observational study is looking at a new way to detect malignant peripheral nerve sheath tumors (MPNSTs) early in adults (18 years and older) with Neurofibromatosis Type 1 (NF1) who also have plexiform neurofibromas (PNs). Researchers are testing a "liquid biopsy," which is a blood test, to see if it can find MPNSTs sooner than current methods like imaging. The study wants to know if this blood test is effective, cost-effective, and if earlier detection could lead to better health outcomes. You would need to have an NF1 diagnosis, a history of PN, and live in the USA. The study is currently unclear on its recruitment status and plans to enroll 1000 participants.

Study design
This is an observational study, meaning participants will be monitored without receiving a specific treatment. It aims to enroll 1000 participants.
What's involved
Participants will provide a blood sample (liquid biopsy) at the start of the study and then every 6 months for five years.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for five years after enrollment.

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

NCT06515860

Neurofibromatosis Type 1 Tumor Early Detection Study

Enrolling by Invitation
Not specifiedAges 18+Observational
David Miller
~1,000 participants
Updated 2026-08-31 on ClinicalTrials.gov
What's tested:Liquid biopsy for MPNST development

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Timing of MPNST detection by liquid biopsy
Measured over From enrollment to the end of the five-year follow-up period

Conditions

Neurofibromatosis Type 1
Neurofibromatosis 1
Plexiform Neurofibroma
Plexiform Neurofibromas
Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumors
Atypical Neurofibroma

Explore related trials

Malignant Peripheral Nerve Sheath TumorNeurofibromatosis Type 1Plexiform Neurofibroma

Where it's being run

1 sites across 1 states
Massachusetts1

Study leadership

  • David T Miller, MD, PhD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

18 years and older (adults only)
Neurofibromatosis Type 1 (NF1) diagnosis (2021 Revised Diagnostic Criteria, PMID: 34012067)
History of plexiform neurofibroma (PN)
Able to read and understand English or Spanish
Live in the USA

Exclusion

Are children (younger than 18 years old)
Do not have NF1
Have no evidence of PN
Are not able to read and understand English or Spanish

What this trial measures

  • Timing of MPNST detection by liquid biopsyFrom enrollment to the end of the five-year follow-up period

    Comparison will be made between date of clinical diagnosis versus the date when the tumor could be detected in a liquid biopsy sample.