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

Phase

N/A

Condition

Neurofibromatosis

Warts

Brain Tumor

Treatment

Arm 1

Clinical Study ID

NCT06880991

10002268

002268-C

Ages 5-120
All Genders

Study 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.

Eligibility Criteria

Inclusion

INCLUSION CRITERIA:
Participants must self-report a diagnosis of NF1 OR be the caregiver of a child withNF1 (5-17 years old with plexiform neurofibroma [pNF] or 12-17 years old withcutaneous 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 tothat individual OR others
Caregivers of a child with NF1 must report a pNF and/or cNF tumor(s) that the childhas 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 inEnglish
The ability of adult participant or caregiver of minor participants to understandand the willingness to sign a written informed consent document

Exclusion

EXCLUSION CRITERIA:

Physical or cognitive limitations that would prevent them from being able toparticipate in a focus group or interview, or unwillingness to do so
Since we will aim to have no less than 25 percent of participants fromunderrepresented* groups, individuals from represented groups may not be able toparticipate after we have reached the maximum target for represented groups.Consistent with best practices for scale development and validation, this will helpensure that the measures are appropriate for people from a variety of backgrounds.

Underrepresented groups are defined as people who identify as African American orBlack, American Indian, Alaska Native, Hispanic/Latine, Native Hawaiian, and otherPacific Islander.

If saturation has been met within a particular age group, potential participantsfrom that completed age group will no longer be eligible.

Study Design

Arm 1

April 29, 2025

March 31, 2028

Study Description