Neurofibromatosis Type 1 Tumor Early Detection Study (NF1-TED)

January 8, 2026 updated by: David Miller

Observational Trial of Liquid Biopsy for Malignant Peripheral Nerve Sheath Tumor (MPNST) Among Participants With Neurofibromatosis Type 1

The goal of this observational study is to determine if a liquid biopsy (i.e. blood test) is an effective clinical tool for monitoring the development of malignant peripheral nerve sheath tumor (MPNST) among adults (18 years and older) with Neurofibromatosis Type 1 (NF1), compared to the current standard of care. The main questions it aims to answer are:

How effective is liquid biopsy compared to the current standard of care (clinical surveillance and imaging) for early detection of MPNST development among people with NF1? Can liquid biopsy offer a cost-effective method for early detection of MPNST in people with NF1? Also, can liquid biopsy provide earlier detection that potentially leads to better outcomes? Also, can offering liquid biopsy improve access to care for people experiencing barriers to access (such as minority populations or people in rural areas)?

At baseline, participants will be asked to:

  • Complete surveys to provide their demographic and NF1-related health information.
  • Report whether or not they are experiencing MPNST-related symptoms.
  • Provide blood samples (15 mL blood total between three tubes, which is approximately one tablespoon).

Every six months during the five-year follow-up period, participants will be asked to:

  • Complete additional surveys to report whether or not they are experiencing MPNST-related symptoms and/or if they have been diagnosed with a new MPNST.
  • Provide an additional blood sample (10 mL blood total in one tube).

If diagnosed with an MPNST by their healthcare provider during the follow-up period, participants will be asked to:

  • Complete an additional survey regarding their diagnosis and symptoms.
  • Provide an additional blood sample (10 mL blood in one tube).
  • In parallel, the study team will request a sample of tumor tissue from the care provider, if available.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

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

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Recruiting
        • Boston Children's Hospital
        • Contact:
        • Principal Investigator:
          • David T Miller, MD, PhD

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

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The study population will be adults with NF1 who live in the United States.

Description

Inclusion Criteria:

  • 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 Criteria:

  • 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

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Timing of MPNST detection by liquid biopsy
Time Frame: From 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.
From enrollment to the end of the five-year follow-up period

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of participants with new MPNST
Time Frame: From enrollment to the end of the five-year follow-up period
New MPNST diagnosed by healthcare provider (Yes/No). The number of participants who develop an MPNST will be compared to the overall size of the cohort.
From enrollment to the end of the five-year follow-up period

Collaborators and Investigators

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

Sponsor

David Miller

Investigators

  • Principal Investigator: David T Miller, MD, PhD, Boston Children's Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

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)

August 7, 2024

Primary Completion (Estimated)

July 1, 2030

Study Completion (Estimated)

July 1, 2030

Study Registration Dates

First Submitted

July 12, 2024

First Submitted That Met QC Criteria

July 17, 2024

First Posted (Actual)

July 23, 2024

Study Record Updates

Last Update Posted (Actual)

January 9, 2026

Last Update Submitted That Met QC Criteria

January 8, 2026

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 23-380 (Other Identifier: Dana Farber/Harvard Cancer Center IRB)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

Investigators conducting the analysis at the end of the follow-up period will need access to IPD, but the plan to share IPD is not yet written.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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