RecruitingNCT06515860

Neurofibromatosis Type 1 Tumor Early Detection Study

Observational Trial of Liquid Biopsy for Malignant Peripheral Nerve Sheath Tumor (MPNST) Among Participants With Neurofibromatosis Type 1


Sponsor

David Miller

Enrollment

1,000 participants

Start Date

Aug 7, 2024

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study aims to detect tumors early in adults who have neurofibromatosis type 1 (NF1) — a genetic condition that causes tumors to grow on nerve tissue. Researchers specifically want to monitor people who have a type of tumor called a plexiform neurofibroma, which can sometimes transform into a more dangerous cancer. **You may be eligible if...** - You are 18 years or older - You have a confirmed NF1 diagnosis based on the updated 2021 criteria - You have a history of plexiform neurofibroma (a nerve sheath tumor) - You can read and understand English or Spanish - You live in the United States **You may NOT be eligible if...** - You are under 18 years of age (this study is for adults only) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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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.


Locations(1)

Boston Children's Hospital

Boston, Massachusetts, United States

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NCT06515860


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