Actively Recruiting
Neurofibromatosis Type 1 Tumor Early Detection Study
Led by David Miller · Updated on 2026-01-09
1000
Participants Needed
1
Research Sites
307 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Neurofibromatosis Type 1 Tumor Early Detection Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 18 years and older (adults only)
- Diagnosed with Neurofibromatosis Type 1 (NF1) according to 2021 Revised Diagnostic Criteria
- History of plexiform neurofibroma (PN)
- Able to read and understand English or Spanish
- Living in the USA
You will not qualify if you...
- Younger than 18 years old
- No diagnosis of Neurofibromatosis Type 1 (NF1)
- No evidence of plexiform neurofibroma (PN)
- Unable to read or understand English or Spanish
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
D
David T Miller, MD, PhD
CONTACT
D
Devika Kumar
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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