Atypical Neurofibroma, Malignant Peripheral Nerve Sheath Tumor, Malignant Peripheral Nerve Sheath Tumors, Neurofibromatosis 1, Neurofibromatosis Type 1, Plexiform Neurofibroma, Plexiform Neurofibromas
Conditions
Keywords
Liquid biopsy, Cancer surveillance, Tumor early detection
Brief summary
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.
Interventions
DIAGNOSTIC_TESTLiquid biopsy for MPNST development
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.
Sponsors
David Miller
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Timing of MPNST detection by liquid biopsy | 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
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with new MPNST | 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. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORDavid T Miller, MD, PhD
Boston Children's Hospital
Outcome results
None listed