Early detection of tumors in Neurofibromatosis Type 1 using blood tests
Observational Trial of Liquid Biopsy for Malignant Peripheral Nerve Sheath Tumor (MPNST) Among Participants With Neurofibromatosis Type 1
This study is testing if a blood test can help adults with Neurofibromatosis Type 1 find tumors earlier than the usual check-ups and scans.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT06515860 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate the effectiveness of liquid biopsy, a blood test, for monitoring the development of malignant peripheral nerve sheath tumors (MPNST) in adults with Neurofibromatosis Type 1 (NF1). It compares the liquid biopsy approach to the current standard of care, which includes clinical surveillance and imaging. The study also investigates whether liquid biopsy can provide a cost-effective and accessible method for early detection, particularly for individuals facing barriers to care. Participants will complete surveys to share their demographic and NF1-related health information.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18 and older diagnosed with Neurofibromatosis Type 1 and a history of plexiform neurofibroma.
Not a fit: Patients who are younger than 18 years old or do not have a diagnosis of Neurofibromatosis Type 1 will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier detection of tumors in NF1 patients, potentially improving treatment outcomes.
How similar studies have performed: Other studies have shown promise in using liquid biopsy for cancer detection, suggesting this approach may be effective, though it is still being explored in this specific context.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: David T Miller, MD, PhD — Boston Children's Hospital
- Study coordinator: David T Miller, MD, PhD
- Email: david.miller2@childrens.harvard.edu
- Phone: 617-355-8221
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.