Neurofibromatosis Type 1 Tumor Early Detection Study (NF1-TED)

David Miller

Status: Enrolling

Conditions: Neurofibromatosis Type 1; Plexiform Neurofibromas; Malignant Peripheral Nerve Sheath Tumors; Atypical Neurofibroma; Neurofibromatosis 1; Plexiform Neurofibroma; Malignant Peripheral Nerve Sheath Tumor

Treatments: Diagnostic Test: Liquid biopsy for MPNST development

Study type: Observational

Funder types: Other

Identifiers

NCT06515860

23-380 (Other Identifier)

Details and patient eligibility

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.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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