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

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

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.

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.

• INCLUSION CRITERIA:
• 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 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

EXCLUSION CRITERIA:

• 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.