Neurofibromatosis Type 1NCT06880991
Development of Patient-Reported Outcome Measures Assessing Tumor Visibility and Appearance Concerns in Neurofibromatosis Type 1: A Qualitative Study
An observational study of Neurofibromatosis Type 1 and Neurofibroma, run by National Cancer Institute (NCI) at 1 site in United States.
Trial summary
Background: Neurofibromatosis 1 (NF1) is a disease that causes tumors to grow along the nerves. These include plexiform neurofibromas (pNF) and cutaneous neurofibromas (cNF). Both pNF and cNF can be visible to other people. These tumors can affect a person s appearance and quality of life. Read more about this study
- Who is it for?
- Ages 5 to 120 years
- Conditions the study is for
- Neurofibromatosis Type 1, Neurofibroma
- What is being tested?
- Arm 1
- How many people
- 110 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Apr 2025to 31 Mar 2028
- 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 5 to 120 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: individuals with neurofibromatosis type 1 (NF1) or be the caregiver of a child with NF1 (5-17 years old with plexiform neurofibroma [pNF] or 12-17 years old with cutaneous neurofibroma [cNF]).
Who may be able to join
- Participants must self-report a diagnosis of NF1 OR be the caregiver of a child with NF1 (5-17 years old with plexiform neurofibroma [pNF] or 12-17 years old with cutaneous neurofibroma [cNF])
- The following for the participant or the caregiver of a child, as appropriate:
- Participants with NF1 must self-report a pNF and/or cNF tumor(s) that is visible to that individual OR others
- Caregivers of a child with NF1 must report a pNF and/or cNF tumor(s) that the child has that is visible to the child OR others
- Age requirements:
- >= 8 years old (participants with pNF)
Show all 12Show fewer
- >= 12 years old (participants with cNF)
- >= 12 years old (participants with pNF and cNF)
- >= 18 years (caregivers)
- Access to a device with internet
- Ability to understand English and comfort discussing their medical condition in English
- The ability of adult participant or caregiver of minor participants to understand and the willingness to sign a written informed consent document
Who cannot join
- Physical or cognitive limitations that would prevent them from being able to participate in a focus group or interview, or unwillingness to do so
- Since we will aim to have no less than 25 percent of participants from underrepresented* groups, individuals from represented groups may not be able to participate after we have reached the maximum target for represented groups. Consistent with best practices for scale development and validation, this will help ensure that the measures are appropriate for people from a variety of backgrounds.
- Underrepresented groups are defined as people who identify as African American or Black, American Indian, Alaska Native, Hispanic/Latine, Native Hawaiian, and other Pacific Islander.
- If saturation has been met within a particular age group, potential participants from that completed age group will no longer be eligible.
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, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
National Cancer Institute Referral Office, 888-624-1937, ncimo_referrals@mail.nih.gov
About this study
Background:
Neurofibromatosis 1 (NF1) is a disease that causes tumors to grow along the nerves. These include plexiform neurofibromas (pNF) and cutaneous neurofibromas (cNF). Both pNF and cNF can be visible to other people. These tumors can affect a person s appearance and quality of life. Researchers want to be able to assess changes in appearance before and after treatment for NF1 tumors.
Read more
Objective:
To see if two questionnaires can help assess people's ratings about the appearance of their pNF and cNF tumors.
Eligibility:
People aged 8 years and older with pNF and people 12 years and older either with cNF or both pNF and cNF. Adult caregivers of children with pNF and cNF are also needed.
Design:
Participants will complete questionnaires on paper or by phone, computer, or tablet. They will answer questions about how they look, how they feel, and how they feel about the way they look.
Participants will meet in at least 1 remote focus group or individual interview. The meeting will last about 1 hour. Each group will include 3 to 5 people, organized by age: 8 to 11 years, 12 to 17 years, 18 to 29 years, and over 30 years. Adult caregivers will meet in a group with other caregivers.
They will discuss their NF1 symptoms; how their tumors look; how they feel about the way their tumors look; and their daily activities. They will give their opinions about 2 questionnaires about appearance.
The group and individual meetings will be audio-recorded and transcribed. Information that can reveal individual identities will be removed.
Read the detailed description
Background:
- Individuals with neurofibromatosis type 1 (NF1) may develop plexiform neurofibroma (pNF) and cutaneous neurofibroma (cNF) tumors, both of which can impact one s physical appearance and quality of life.
- To date, there are no validated patient-reported outcome (PRO) measures to assess tumor visibility or appearance-related concerns for individuals with these tumors.
- The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) PRO working group, which includes professionals from multiple disciplines and patient representatives, has reviewed disfigurement and appearance concerns measures for potential use in pNF and cNF clinical research trials.
- The group modified existing items to create the Tumor Visibility Rating Scale (TVRS) for pNF (TVRS-pNF) and TVRS for cNF tumors (TVRS-cNF).
- Among measures of appearance concerns reviewed by the REiNS PRO group, the FACEQ was the top candidate for use in NF1 clinical trials but will need to be qualitatively analyzed to confirm its appropriateness.
Primary Objective:
-To evaluate newly developed measures of tumor visibility (TVRS-pNF and TVRS-cNF) and to select the most appropriate items to assess these constructs in NF1 based on qualitative feedback from children and adults with NF1 and caregivers of children with NF1 to use as endpoints in clinical trials
Eligibility:
- Age 8 plus years for pNF tumors and 12 plus years for cNF tumors
- Self-reported diagnosis of NF1 with a pNF and/or cNF tumor(s) or caregiver of a child with NF1 with visible pNF and/or cNF tumor(s)
- Comfortable discussing their medical condition in English
- Access to a device with internet
Design:
- This is a qualitative study that seeks to enroll children and adults with pNF and/or cNF tumors and caregivers of a child with these tumors to take part in focus groups and interviews about the domains and measures of interest. These results will inform modifications to the measures.
- A sample size of 90 participants is expected to be sufficient to meet our objectives. To account for inevaluable participants, the accrual ceiling is 110.
- Conditions
- Neurofibromatosis Type 1, Neurofibroma
- Being tested
- Arm 1
- Keywords
- Qualitative, Focus Groups, Instrument Development
- Medical subject headings
- Neurofibromatosis 1, Neurofibroma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Arm 1Other
Participant completion of questionnaires and participation in focus group(s) and/or interview sessions.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1, Participants with pNF | Individuals age 8+ years with plexiform neurofibroma (pNF) tumor Receives: Other: Arm 1 | |
| Cohort 2, Caregiver of children with pNF | Caregivers of children (ages 5-17 years) with a plexiform neurofibroma (pNF) tumor Receives: Other: Arm 1 | |
| Cohort 3, Participants with cNF | Individuals age 12+ years with cutaneous neurofibroma (cNF) tumors Receives: Other: Arm 1 | |
| Cohort 4, Caregiver of children with cNF | Caregivers of children (ages 12-17 years) with cutaneous neurofibroma (cNF) tumors Receives: Other: Arm 1 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate new tumor visibility (DRS-pNF, DRS-cNF self-report/parent-report); to select the most appropriate items to assess these constructs in NF1 based on qualitative feedback from children and adults with NF1 and visible pNF or cNF
The primary endpoints will be the modified measures of tumor visibility resulting from the qualitative data obtained from the focus groups and interviews.
Measured: throughout the study
Secondary outcomes (1)
Evaluate an existing measure of appearance concerns based on qualitative feedback from children & adults with NF1 and visible pNF and/or cNF tumors and caregivers of children with NF1 to determine its appropriateness for NF1 clinical tri...
The secondary endpoint will be either the FACE-Q or a newly developed measure of appearance concerns, depending on the results of the qualitative focus groups and interviews.
Measured: throughout the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2025
- Study start29 Apr 2025
- Primary completion31 Mar 2027 (estimated)
- Study completion31 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis Type 1Studies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- 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
- 110 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Staci M Peron, Ph.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06880991
- Sponsor's protocol ID
- 10002268
- Other IDs
- 002268-C
- Status last verified
- 13 Oct 2026
- First submitted
- 15 Mar 2025
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: This study will comply with the NIH Data Management and Sharing (DMS) Policy, which applies to all new and ongoing NIH-funded research in the IRP, as of January 25, 2023, that is associated with a ZIA, with a clinical protocol that undergoes scientific review.
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of Patient-Reported Outcome Measures Assessing Tumor Visibility and Appearance Concerns in Neurofibromatosis Type 1: A Qualitative Study
- ClinicalTrials.gov ID
- NCT06880991
- Acronym / sponsor ID
- 10002268
- Conditions
- Neurofibromatosis Type 1, Neurofibroma
- Keywords
- Qualitative, Focus Groups, Instrument Development
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 110 participants (estimated)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 29 Apr 2025 (actual)
- Primary completion
- 31 Mar 2027 (estimated)
- Study completion
- 31 Mar 2028 (estimated)
- First posted
- 18 Mar 2025 (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.
Background:
Neurofibromatosis 1 (NF1) is a disease that causes tumors to grow along the nerves. These include plexiform neurofibromas (pNF) and cutaneous neurofibromas (cNF). Both pNF and cNF can be visible to other people. These tumors can affect a person s appearance and quality of life. Researchers want to be able to assess changes in appearance before and after treatment for NF1 tumors.
Objective:
To see if two questionnaires can help assess people's ratings about the appearance of their pNF and cNF tumors.
Eligibility:
People aged 8 years and older with pNF and people 12 years and older either with cNF or both pNF and cNF. Adult caregivers of children with pNF and cNF are also needed.
Design:
Participants will complete questionnaires on paper or by phone, computer, or tablet. They will answer questions about how they look, how they feel, and how they feel about the way they look.
Participants will meet in at least 1 remote focus group or individual interview. The meeting will last about 1 hour. Each group will include 3 to 5 people, organized by age: 8 to 11 years, 12 to 17 years, 18 to 29 years, and over 30 years. Adult caregivers will meet in a group with other caregivers.
They will discuss their NF1 symptoms; how their tumors look; how they feel about the way their tumors look; and their daily activities. They will give their opinions about 2 questionnaires about appearance.
The group and individual meetings will be audio-recorded and transcribed. Information that can reveal individual identities will be removed.
Detailed description
Background:
- Individuals with neurofibromatosis type 1 (NF1) may develop plexiform neurofibroma (pNF) and cutaneous neurofibroma (cNF) tumors, both of which can impact one s physical appearance and quality of life.
- To date, there are no validated patient-reported outcome (PRO) measures to assess tumor visibility or appearance-related concerns for individuals with these tumors.
- The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) PRO working group, which includes professionals from multiple disciplines and patient representatives, has reviewed disfigurement and appearance concerns measures for potential use in pNF and cNF clinical research trials.
- The group modified existing items to create the Tumor Visibility Rating Scale (TVRS) for pNF (TVRS-pNF) and TVRS for cNF tumors (TVRS-cNF).
- Among measures of appearance concerns reviewed by the REiNS PRO group, the FACEQ was the top candidate for use in NF1 clinical trials but will need to be qualitatively analyzed to confirm its appropriateness.
Primary Objective:
-To evaluate newly developed measures of tumor visibility (TVRS-pNF and TVRS-cNF) and to select the most appropriate items to assess these constructs in NF1 based on qualitative feedback from children and adults with NF1 and caregivers of children with NF1 to use as endpoints in clinical trials
Eligibility:
- Age 8 plus years for pNF tumors and 12 plus years for cNF tumors
- Self-reported diagnosis of NF1 with a pNF and/or cNF tumor(s) or caregiver of a child with NF1 with visible pNF and/or cNF tumor(s)
- Comfortable discussing their medical condition in English
- Access to a device with internet
Design:
- This is a qualitative study that seeks to enroll children and adults with pNF and/or cNF tumors and caregivers of a child with these tumors to take part in focus groups and interviews about the domains and measures of interest. These results will inform modifications to the measures.
- A sample size of 90 participants is expected to be sufficient to meet our objectives. To account for inevaluable participants, the accrual ceiling is 110.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Cohort 1, Participants with pNF | – | Other: Arm 1Individuals age 8+ years with plexiform neurofibroma (pNF) tumor |
| Cohort 2, Caregiver of children with pNF | – | Other: Arm 1Caregivers of children (ages 5-17 years) with a plexiform neurofibroma (pNF) tumor |
| Cohort 3, Participants with cNF | – | Other: Arm 1Individuals age 12+ years with cutaneous neurofibroma (cNF) tumors |
| Cohort 4, Caregiver of children with cNF | – | Other: Arm 1Caregivers of children (ages 12-17 years) with cutaneous neurofibroma (cNF) tumors |
Who may qualify
- Ages
- 5 to 120 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- individuals with neurofibromatosis type 1 (NF1) or be the caregiver of a child with NF1 (5-17 years old with plexiform neurofibroma [pNF] or 12-17 years old with cutaneous neurofibroma [cNF]).
Key inclusion criteria (12 listed)
- Participants must self-report a diagnosis of NF1 OR be the caregiver of a child with NF1 (5-17 years old with plexiform neurofibroma [pNF] or 12-17 years old with cutaneous neurofibroma [cNF])
- Participants with NF1 must self-report a pNF and/or cNF tumor(s) that is visible to that individual OR others
- Caregivers of a child with NF1 must report a pNF and/or cNF tumor(s) that the child has that is visible to the child OR others
- Age requirements:
- Access to a device with internet
Key exclusion criteria (4 listed)
- Physical or cognitive limitations that would prevent them from being able to participate in a focus group or interview, or unwillingness to do so
- Since we will aim to have no less than 25 percent of participants from underrepresented* groups, individuals from represented groups may not be able to participate after we have reached the maximum target for represented groups. Consistent with best practices for scale development and validation, this will help ensure that the measures are appropriate for people from a variety of backgrounds.
- If saturation has been met within a particular age group, potential participants from that completed age group will no longer be eligible.
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 |
|---|---|---|
| Arm 1Participant completion of questionnaires and participation in focus group(s) and/or interview sessions. | Other | Cohort 1, Participants with pNF, Cohort 2, Caregiver of children with pNF, Cohort 3, Participants with cNF, Cohort 4, Caregiver of children with cNF |
Primary outcome
Evaluate new tumor visibility (DRS-pNF, DRS-cNF self-report/parent-report); to select the most appropriate items to assess these constructs in NF1 based on qualitative feedback from children and adults with NF1 and visible pNF or cNF
Time frame: throughout the study
The primary endpoints will be the modified measures of tumor visibility resulting from the qualitative data obtained from the focus groups and interviews.
1 secondary outcome
Evaluate an existing measure of appearance concerns based on qualitative feedback from children & adults with NF1 and visible pNF and/or cNF tumors and caregivers of children with NF1 to determine its appropriateness for NF1 clinical tri...
Time frame: throughout the study
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 16 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. This study will comply with the NIH Data Management and Sharing (DMS) Policy, which applies to all new and ongoing NIH-funded research in the IRP, as of January 25, 2023, that is associated with a ZIA, with a clinical protocol that undergoes scientific review.
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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.
Staci M Peron, Ph.D. principal investigator
National Cancer Institute (NCI)
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 Neurofibroma, run by National Cancer Institute (NCI) 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 12 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: looking for participants now, as of the sponsor's last update on 16 Oct 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?
Contact Staci M Peron, Ph.D. ((240) 760-6025, martins@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate new tumor visibility (DRS-pNF, DRS-cNF self-report/parent-report); to select the most appropriate items to assess these constructs in NF1 based on qualitative feedback from children and adults with NF1 and visible pNF or cNF (time frame: throughout the study). 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 16 Oct 2026.