Neurofibromatosis Type 1 Tumor Early Detection Study

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
David Miller
Study ID
NCT06515860
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • 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.

Study Details

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.

Key Dates

Start date
Aug 7, 2024
Status verified
Dec 2025
Primary completion
Jul 31, 2030
Completion
Jul 31, 2030

Study Design

Enrollment
1,000 participants (estimated)

Primary Outcome Measure

Timing of MPNST detection by liquid biopsy [ Time Frame: From enrollment to the end of the five-year follow-up period ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
David T Miller, MD, PhD
[email protected]
617-355-8221
David T Miller, MD, PhD (PRINCIPAL_INVESTIGATOR)

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By research site
Boston Children's Hospital· Boston, MA

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