Neurofibromatosis Type 1 Tumor Early Detection Study

Recruiting

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

• Registration Number: NCT06515860
• Lead Sponsor: David Miller

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-07-12
• Study First Submitted QC: 2024-07-17
• Study First Posted: 2024-07-23
• Status Verified: 2024-08
• Study Start: 2024-08-07
• Last Update Submitted: 2024-08-23
• Last Update Posted: 2024-08-26
• Primary Completion: 2030-07
• Study Completion: 2030-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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

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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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States