Development of Patient-Reported Outcome Measures Assessing Tumor-Related Disfigurement and Appearance Concerns in Neurofibromatosis Type 1

Description

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

Neurofibromatosis Type 1, Neurofibroma

Study Overview

Study Details

Study overview

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.

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

Development of Patient-Reported Outcome Measures Assessing Tumor-Related Disfigurement and Appearance Concerns in Neurofibromatosis Type 1

Condition
Neurofibromatosis Type 1
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Participants must self-report a diagnosis of NF1 OR be the caregiver of a child with NF1 (5-17 years old with \[pNF\] or 12-17 years old child with \[cNF\])
  • * 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:
  • * \>= 8 years old (participants with pNF)
  • * \>= 12 years old (participants with cNF)
  • * \>= 12 years old (participants with pNF and cNF)
  • * \>= 18 years (caregivers only)
  • * 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
  • * Physical or cognitive limitations that would prevent them from being able to participate in a focus group or interview, or unwillingness to do so
  • * If saturation has been met within a particular age group, potential participants from that completed age group will no longer be eligible.

Ages Eligible for Study

5 Years to 120 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

National Cancer Institute (NCI),

Staci M Peron, Ph.D., PRINCIPAL_INVESTIGATOR, National Cancer Institute (NCI)

Study Record Dates

2027-03-31