An observational study in Neurofibromatosis Type 1, Neurofibromatosis 1 and Plexiform Neurofibroma, sponsored by David Miller. Enrolling by invitation at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-08-31.
Sponsored by David Miller · Observational
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:
Every six months during the five-year follow-up period, participants will be asked to:
If diagnosed with an MPNST by their healthcare provider during the follow-up period, participants will be asked to:
The study population will be adults with NF1 who live in the United States.
Exclusion Criteria:
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.
Timing of MPNST detection by liquid biopsy
Comparison will be made between date of clinical diagnosis versus the date when the tumor could be detected in a liquid biopsy sample.
Time frame: From enrollment to the end of the five-year follow-up period
Number of participants with new MPNST
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.
Time frame: From enrollment to the end of the five-year follow-up period
Plan to share: Undecided — 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.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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