Development of Patient-Reported Outcome Measures Assessing Tumor Visibility and Appearance Concerns in Neurofibromatosis Type 1: A Qualitative Study

NCT06880991 | Recruiting

• 2 other identifiers: 10002268002268-C
• Study Type: observational
• Target: 110
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Neurofibroma; Neurofibromatosis Type 1

Keywords

Qualitative; Focus Groups; Instrument Development

Outcome Measures

Primary Outcomes (1)

• 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.

  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...

  throughout the study

Study Arms (4)

Cohort 1, Participants with pNF

Individuals age 8+ years with plexiform neurofibroma (pNF) tumor

Other: Arm 1

Cohort 2, Caregiver of children with pNF

Caregivers of children (ages 5-17 years) with a plexiform neurofibroma (pNF) tumor

Other: Arm 1

Cohort 3, Participants with cNF

Individuals age 12+ years with cutaneous neurofibroma (cNF) tumors

Other: Arm 1

Cohort 4, Caregiver of children with cNF

Caregivers of children (ages 12-17 years) with cutaneous neurofibroma (cNF) tumors

Other: Arm 1

Interventions

Arm 1 OTHER

Participant completion of questionnaires and participation in focus group(s) and/or interview sessions.

Cohort 1, Participants with pNF; Cohort 2, Caregiver of children with pNF; Cohort 3, Participants with cNF; Cohort 4, Caregiver of children with cNF

Eligibility Criteria

• Age: 5 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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 \[cNF\]).

You may qualify if:

• 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)
• \>= 12 years old (participants with cNF)
• \>= 12 years old (participants with pNF and cNF)
• \>= 18 years (caregivers)
• Access to 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibroma

Condition Hierarchy (Ancestors)

Neurofibromatoses; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Peripheral Nervous System Neoplasms; Nervous System Neoplasms

Study Officials

• Staci M Peron, Ph.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Staci M Peron, Ph.D.

CONTACT

(240) 760-6025; martins@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 15, 2025
• First Posted: March 18, 2025
• Study Start: April 29, 2025
• Primary Completion (Estimated): March 31, 2027
• Study Completion (Estimated): March 31, 2028
• Last Updated: April 29, 2026

Record last verified: 2026-04-27

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Data will be shared after completion of the primary endpoint per the data management sharing plan.
• Access Criteria: Data may be requested by contacting the Principal Investigator.

Locations

US (1)