Current Environment:

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.

Conditions

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

Recruitment Status

RECRUITING

Eligibility Criteria

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

Intervention

Intervention Type

Intervention Name

DIAGNOSTIC_TEST

Liquid biopsy for MPNST development

Gender

ALL

Min Age

18 Years

Max Age

N/A

Download Date

2024-08-26

Principal Investigator

David Miller

This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.

Primary Contact Information

Aryani Pallerla, BS
aryani.pallerla@childrens.harvard.edu

This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.

For more information on this trial, visit clinicaltrials.gov.

Contact

For more information and to contact the study team:

Neurofibromatosis Type 1 Tumor Early Detection Study NCT06515860 Aryani Pallerla, BS aryani.pallerla@childrens.harvard.edu