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NCT Number: NCT06515860

Neurofibromatosis Type 1 Tumor Early Detection Study

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.

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Key information

Conditions

Neurofibromatosis Type 1 Atypical Neurofibroma Congenital, Hereditary, and Neonatal Diseases and Abnormalities Fibrosarcoma Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumors Neoplasms Neoplasms by Histologic Type Neoplasms, Connective Tissue Neoplasms, Connective and Soft Tissue Neoplasms, Fibrous Tissue Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Nervous System Neoplasms Neurocutaneous Syndromes Neurodegenerative Diseases Neurofibroma Neurofibroma, Plexiform Neurofibromatoses Neurofibromatosis 1 Neurofibrosarcoma Neuromuscular Diseases Peripheral Nervous System Diseases Peripheral Nervous System Neoplasms Plexiform Neurofibroma Plexiform Neurofibromas Sarcoma

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location status: Recruiting

Location contact

David T Miller, MD, PhD

CONTACT

[email protected]

617-355-8221

David T Miller, MD, PhD

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Liquid biopsy for MPNST development

Diagnostic Test

Participants will be asked to complete a blood sample (liquid biopsy) at baseline (15 mL, approximately 1 tablespoon) and every 6 months (10 mL) for the five-year follow-up period.

Primary outcomes

  1. 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.

Secondary outcomes

  1. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

David T Miller, MD, PhD

CONTACT

[email protected]

617-355-8221

Devika Kumar

CONTACT

[email protected]

6173554517

Sponsors and collaborators

Lead sponsor

David Miller

Other

Registry information

Official study title

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

Acronym: NF1-TED

Important dates

Study start
2024
Primary completion
2030
Study completion
2030
First posted
Jul 23, 2024
Registry last updated
Jan 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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