Neurofibromatosis Type 1NF1-TEDNCT06515860
Neurofibromatosis Type 1 Tumor Early Detection Study
An observational study of Neurofibromatosis Type 1 and Neurofibromatosis 1, run by David Miller at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Neurofibromatosis Type 1, Neurofibromatosis 1, Plexiform Neurofibroma
- What is being tested?
- Liquid biopsy for MPNST development
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Aug 2024to Jul 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The study population will be adults with NF1 who live in the United States.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Boston Children's Hospital
Boston, Massachusetts, 02115
About this study
Official title: Observational Trial of Liquid Biopsy for Malignant Peripheral Nerve Sheath Tumor (MPNST) Among Participants With Neurofibromatosis Type 1
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)?
Read more
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
- Being tested
- Liquid biopsy for MPNST development
- Keywords
- Liquid biopsy, Cancer surveillance, Tumor early detection
- Medical subject headings
- Neurofibromatosis 1, Neurofibroma, Plexiform, Neurofibrosarcoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Liquid biopsy for MPNST developmentDiagnostic test
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Timing of MPNST detection by liquid biopsy
Comparison will be made between date of clinical diagnosis versus the date when the tumor could be detected in a liquid biopsy sample.
Measured: From enrollment to the end of the five-year follow-up period
Secondary outcomes (1)
Number of participants with new MPNST
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.
Measured: From enrollment to the end of the five-year follow-up period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Jul 2024
- Study start7 Aug 2024
- Primary completionJul 2030 (estimated)
- Study completionJul 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Neurofibromatosis Type 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- David Miller
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, David Miller, Boston Children's Hospital
- Investigators
- David T Miller, MD, PhD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06515860
- Sponsor's protocol ID
- 23-380
- Other IDs
- 23-380
- Acronym
- NF1-TED
- Status last verified
- Jul 2026
- First submitted
- 12 Jul 2024
- Last updated
- 31 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Investigators conducting the analysis at the end of the follow-up period will need access to IPD, but the plan to share IPD is not yet written.
Publications
Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Hum Pathol. 2017 Sep;67:1-10. doi: 10.1016/j.humpath.2017.05.010. Epub 2017 May 24.
PubMed 28551330Klein EA, Richards D, Cohn A, Tummala M, Lapham R, Cosgrove D, Chung G, Clement J, Gao J, Hunkapiller N, Jamshidi A, Kurtzman KN, Seiden MV, Swanton C, Liu MC. Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set. Ann Oncol. 2021 Sep;32(9):1167-1177. doi: 10.1016/j.annonc.2021.05.806. Epub 2021 Jun 24.
PubMed 34176681Chaudhuri AA, Chabon JJ, Lovejoy AF, Newman AM, Stehr H, Azad TD, Khodadoust MS, Esfahani MS, Liu CL, Zhou L, Scherer F, Kurtz DM, Say C, Carter JN, Merriott DJ, Dudley JC, Binkley MS, Modlin L, Padda SK, Gensheimer MF, West RB, Shrager JB, Neal JW, Wakelee HA, Loo BW Jr, Alizadeh AA, Diehn M. Early Detection of Molecular Residual Disease in Localized Lung Cancer by Circulating Tumor DNA Profiling. Cancer Discov. 2017 Dec;7(12):1394-1403. doi: 10.1158/2159-8290.CD-17-0716. Epub 2017 Sep 24.
PubMed 28899864Pemov A, Li H, Presley W, Wallace MR, Miller DT. Genetics of human malignant peripheral nerve sheath tumors. Neurooncol Adv. 2019 Nov 28;2(Suppl 1):i50-i61. doi: 10.1093/noajnl/vdz049. eCollection 2020 Jul.
PubMed 32642732Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium. Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer Discov. 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786.
PubMed 36598417Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008 Aug;10(4):593-8. doi: 10.1215/15228517-2008-011. Epub 2008 Jun 17.
PubMed 18559970Pemov A, Li H, Patidar R, Hansen NF, Sindiri S, Hartley SW, Wei JS, Elkahloun A, Chandrasekharappa SC; NISC Comparative Sequencing Program; Boland JF, Bass S; NCI DCEG Cancer Genomics Research Laboratory; Mullikin JC, Khan J, Widemann BC, Wallace MR, Stewart DR. The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. Oncogene. 2017 Jun 1;36(22):3168-3177. doi: 10.1038/onc.2016.464. Epub 2017 Jan 9.
PubMed 28068329
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Trial of Liquid Biopsy for Malignant Peripheral Nerve Sheath Tumor (MPNST) Among Participants With Neurofibromatosis Type 1
- ClinicalTrials.gov ID
- NCT06515860
- Acronym / sponsor ID
- NF1-TED / 23-380
- Conditions
- Neurofibromatosis Type 1, Neurofibromatosis 1, Plexiform Neurofibroma, Plexiform Neurofibromas, Malignant Peripheral Nerve Sheath Tumor, Malignant Peripheral Nerve Sheath Tumors
- Keywords
- Liquid biopsy, Cancer surveillance, Tumor early detection
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- David MillerUniversity, hospital or other
- Study start
- 7 Aug 2024 (actual)
- Primary completion
- Jul 2030 (estimated)
- Study completion
- Jul 2030 (estimated)
- First posted
- 23 Jul 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study population will be adults with NF1 who live in the United States.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Liquid biopsy for MPNST developmentParticipants 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. | Diagnostic test | – |
Primary outcome
Timing of MPNST detection by liquid biopsy
Time frame: 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.
1 secondary outcome
Number of participants with new MPNST
Time frame: From enrollment to the end of the five-year follow-up period
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Aug 2026.
- Background: PubMed 28551330Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Hum Pathol. 2017 Sep;67:1-10. doi: 10.1016/j.humpath.2017.05.010. Epub 2017 May 24.
- Background: PubMed 34176681Klein EA, Richards D, Cohn A, Tummala M, Lapham R, Cosgrove D, Chung G, Clement J, Gao J, Hunkapiller N, Jamshidi A, Kurtzman KN, Seiden MV, Swanton C, Liu MC. Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set. Ann Oncol. 2021 Sep;32(9):1167-1177. doi: 10.1016/j.annonc.2021.05.806. Epub 2021 Jun 24.
- Background: PubMed 28899864Chaudhuri AA, Chabon JJ, Lovejoy AF, Newman AM, Stehr H, Azad TD, Khodadoust MS, Esfahani MS, Liu CL, Zhou L, Scherer F, Kurtz DM, Say C, Carter JN, Merriott DJ, Dudley JC, Binkley MS, Modlin L, Padda SK, Gensheimer MF, West RB, Shrager JB, Neal JW, Wakelee HA, Loo BW Jr, Alizadeh AA, Diehn M. Early Detection of Molecular Residual Disease in Localized Lung Cancer by Circulating Tumor DNA Profiling. Cancer Discov. 2017 Dec;7(12):1394-1403. doi: 10.1158/2159-8290.CD-17-0716. Epub 2017 Sep 24.
- Background: PubMed 32642732Pemov A, Li H, Presley W, Wallace MR, Miller DT. Genetics of human malignant peripheral nerve sheath tumors. Neurooncol Adv. 2019 Nov 28;2(Suppl 1):i50-i61. doi: 10.1093/noajnl/vdz049. eCollection 2020 Jul.
- Background: PubMed 36598417Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium. Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer Discov. 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786.
- Background: PubMed 18559970Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008 Aug;10(4):593-8. doi: 10.1215/15228517-2008-011. Epub 2008 Jun 17.
- Background: PubMed 28068329Pemov A, Li H, Patidar R, Hansen NF, Sindiri S, Hartley SW, Wei JS, Elkahloun A, Chandrasekharappa SC; NISC Comparative Sequencing Program; Boland JF, Bass S; NCI DCEG Cancer Genomics Research Laboratory; Mullikin JC, Khan J, Widemann BC, Wallace MR, Stewart DR. The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. Oncogene. 2017 Jun 1;36(22):3168-3177. doi: 10.1038/onc.2016.464. Epub 2017 Jan 9.
- Neurofibromatosis Type 1 Tumor Early Detection (NF1-TED) Study PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. Investigators conducting the analysis at the end of the follow-up period will need access to IPD, but the plan to share IPD is not yet written.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
David T Miller, MD, PhD principal investigator
Boston Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis Type 1 and Neurofibromatosis 1, run by David Miller at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 31 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Timing of MPNST detection by liquid biopsy (time frame: From enrollment to the end of the five-year follow-up period). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06515860, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Aug 2026.