Cutaneous NeurofibromasNCT02777775
Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.
An observational study of Cutaneous Neurofibromas and Neurofibromatosis Type 1, run by Corewell Health West at 1 site in United States.
Trial summary
The purpose of the research study is intended to use specimens (such as tissue) and medical information in the Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute for laboratory research in Grand Rapids, Michigan. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Cutaneous Neurofibromas, Neurofibromatosis Type 1, Plexiform Neurofibromas
- What is being tested?
- Skin Biopsy
- Type of treatment
- Surgery or procedure
- How many people
- 71 participants
- Where
- 1 siteUnited States
- Study dates
- May 2016to Jun 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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
- Healthy volunteers accepted
- Adult, Older adult
Study population: Anyone with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
Who may be able to join
- Any subject with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
- Age >18 years.
Who cannot join
- Adults with diminished decision-making capacity with no defined legal guardian.
- Prisoners.
- Pregnant women.
- 3) Breastfeeding mothers.
Trial locations and contacts
1 site in 1 country.
United States1 site
Spectrum Health Hospital Group
Grand Rapids, Michigan, 49503
About this study
The purpose of the research study is intended to use specimens (such as tissue) and medical information in the Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute for laboratory research in Grand Rapids, Michigan. Small tissue samples of cutaneous neurofibromas will be collected as part of this research. The samples will help researchers learn more about cutaneous neurofibroma and help them better understand NF1. There are many different types of studies, both now and in the future, that can be done using the specimens the investigators receive. These include using the specimens and information to look for new ways to diagnose and treat Neurofibromatosis Type 1 (NF1). The specimens may be used to study how genes affect health and disease, or how genes affect the way a disease or condition responds to treatment. Some of these studies may lead to new products, such as treatments or tests for diseases. Through this study, the investigators hope to find better ways to understand and treat NF1 in the future.
Read the detailed description
Skin tumors in Neurofibromatosis Type 1 (NF1) are very common and diminish quality of life. Apart from surgery, very few treatment options exist. In comparison to other types of tumors in NF1, skin tumors receive less attention in the research world because they almost never turn into cancer. Under the microscope, skin tumors and plexiform tumors look similar, however they do not share the same growth potential, nor do they appear at the same time during development. These differences suggest that skin tumors are driven by different factors than plexiform tumors.
In this study the investigators will be harvesting CNFs from 3 groups of subjects in order to obtain a minimum of 18 tumors in three size categories: <5mm, 5-10mm, and >1cm. These sizes were selected based on the variable natural history of CNF progression where incipient lesions (typically <5mm) are more numerous and demonstrate a less aggressive growth pattern, whereas the intermediate group (5-10mm) represent a transition state towards growth to larger (>1cm) lesions. Interestingly, CNF growth tends to stall out at 3cm. The investigators plan to do experiments that identify which factors are important to CNF progression, and then find matching drugs that can shrink the tumors.
- Being tested
- Skin Biopsy
- Keywords
- NF1, CNF, PNF, Skin Tumors
- Medical subject headings
- Neurofibromatosis 1, Neurofibroma, Plexiform, Skin Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin BiopsyProcedure or surgery
The procedure to sample the cutaneous neurofibroma involves a skin incision and will take approximately 10 to 15 minutes. The tissue will be taken in the following way:
- The skin area will be cleaned
- The skin area will be numbed (by either a numbing cream or a tiny numbing shot)
- Cutaneous (skin) Neurofibroma: will be taken via a small incision and removal of the neurofibroma whenever possible.
- A small piece of normal (skin) tissue will be numbed as above and taken using a special skin biopsy device.
Afterward, the area will be cleaned and the skin put back together with medical super glue or 1 to 2 dissolvable stitches that will dissolve as the incision heals, they do not require removal. The purpose of taking this piece of skin is to compare normal skin with the skin of a cutaneous neurofibroma.
What is being measured
The primary outcome is the main question the study is designed to answer.
Tissue Harvesting via Tissue Excision - up to 74 CNFs will be collected from patients to obtain 8 tumors in three size categories: <5mm, 5-10mm, and >1cm. CNFs will be determined based on examiner's experience.
Identify which genomic factors are important to CNF progression, and find matching drugs that can shrink the tumors and improve quality of life.
Measured: 2 Years
Secondary outcomes (1)
UV Exposure and NF1 History Questionaires
Measuring the relationship between sun exposure and CNF growth and development.
Measured: 2 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2016 (estimated)
- Study startMay 2016
- Primary completionJun 2025
- Study completionJun 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cutaneous NeurofibromasStudies 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
- 71 participants (actual)
Sponsor and investigators
- Lead sponsor
- Corewell Health West
- Sponsor type
- University, hospital or other
- Collaborators
- Van Andel Research Institute
- Responsible party
- Principal investigator, Matthew Steensma, Corewell Health West
- Investigators
- Matthew R Steensma, MD, Principal investigator, Corewell Health West
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02777775
- Sponsor's protocol ID
- 2014-295
- Status last verified
- Jun 2025
- First submitted
- 21 Jan 2015
- Last updated
- 24 Jul 2025
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.
- ClinicalTrials.gov ID
- NCT02777775
- Acronym / sponsor ID
- 2014-295
- Keywords
- NF1, CNF, PNF, Skin Tumors
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 71 participants (actual)
- Lead sponsor
- Corewell Health WestUniversity, hospital or other
- Collaborators
- Van Andel Research Institute
- Study start
- May 2016
- Primary completion
- Jun 2025 (actual)
- Study completion
- Jun 2025 (actual)
- First posted
- 19 May 2016 (estimated)
- 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 purpose of the research study is intended to use specimens (such as tissue) and medical information in the Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute for laboratory research in Grand Rapids, Michigan. Small tissue samples of cutaneous neurofibromas will be collected as part of this research. The samples will help researchers learn more about cutaneous neurofibroma and help them better understand NF1. There are many different types of studies, both now and in the future, that can be done using the specimens the investigators receive. These include using the specimens and information to look for new ways to diagnose and treat Neurofibromatosis Type 1 (NF1). The specimens may be used to study how genes affect health and disease, or how genes affect the way a disease or condition responds to treatment. Some of these studies may lead to new products, such as treatments or tests for diseases. Through this study, the investigators hope to find better ways to understand and treat NF1 in the future.
Detailed description
Skin tumors in Neurofibromatosis Type 1 (NF1) are very common and diminish quality of life. Apart from surgery, very few treatment options exist. In comparison to other types of tumors in NF1, skin tumors receive less attention in the research world because they almost never turn into cancer. Under the microscope, skin tumors and plexiform tumors look similar, however they do not share the same growth potential, nor do they appear at the same time during development. These differences suggest that skin tumors are driven by different factors than plexiform tumors.
In this study the investigators will be harvesting CNFs from 3 groups of subjects in order to obtain a minimum of 18 tumors in three size categories: <5mm, 5-10mm, and >1cm. These sizes were selected based on the variable natural history of CNF progression where incipient lesions (typically <5mm) are more numerous and demonstrate a less aggressive growth pattern, whereas the intermediate group (5-10mm) represent a transition state towards growth to larger (>1cm) lesions. Interestingly, CNF growth tends to stall out at 3cm. The investigators plan to do experiments that identify which factors are important to CNF progression, and then find matching drugs that can shrink the tumors.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Anyone with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
Key inclusion criteria (2 listed)
- Any subject with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
- Age >18 years.
Key exclusion criteria (4 listed)
- Adults with diminished decision-making capacity with no defined legal guardian.
- Prisoners.
- Pregnant women.
- 3) Breastfeeding mothers.
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 |
|---|---|---|
| Skin BiopsyThe procedure to sample the cutaneous neurofibroma involves a skin incision and will take approximately 10 to 15 minutes. The tissue will be taken in the following way: * The skin area will be cleaned * The skin area will be numbed (by either a numbing cream or a tiny numbing shot) * Cutaneous (skin) Neurofibroma: will be taken via a small incision and removal of the neurofibroma whenever possible. * A small piece of normal (skin) tissue will be numbed as above and taken using a special skin biopsy device. Afterward, the area will be cleaned and the skin put back together with medical super glue or 1 to 2 dissolvable stitches that will dissolve as the incision heals, they do not require removal. The purpose of taking this piece of skin is to compare normal skin with the skin of a cutaneous neurofibroma. | Procedure or surgery | – |
Primary outcome
Tissue Harvesting via Tissue Excision - up to 74 CNFs will be collected from patients to obtain 8 tumors in three size categories: <5mm, 5-10mm, and >1cm. CNFs will be determined based on examiner's experience.
Time frame: 2 Years
Identify which genomic factors are important to CNF progression, and find matching drugs that can shrink the tumors and improve quality of life.
1 secondary outcome
UV Exposure and NF1 History Questionaires
Time frame: 2 Years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jul 2025.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Matthew R Steensma, MD principal investigator
Corewell Health West
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 Cutaneous Neurofibromas and Neurofibromatosis Type 1, run by Corewell Health West 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 2 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: finished, as of the sponsor's last update on 24 Jul 2025. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Tissue Harvesting via Tissue Excision - up to 74 CNFs will be collected from patients to obtain 8 tumors in three size categories: <5mm, 5-10mm, and >1cm. CNFs will be determined based on examiner's experience. (time frame: 2 Years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 24 Jul 2025.