Study to Develop and Evaluate Questionnaires on Tumor Appearance and Visibility in Neurofibromatosis Type 1 for Children, Adults, and Caregivers

What this Trial Is About

Neurofibromatosis type 1 NF1 is a condition that causes tumors called plexiform neurofibromas pNF and cutaneous neurofibromas cNF to grow along the nerves, which can affect a persons appearance and quality of life. This research aims to evaluate newly developed questionnaires to assess how visible these tumors are and how people feel about their appearance. The study focuses on gathering feedback from children, adults with NF1, and caregivers to improve these measures for use in clinical trials. Participants include individuals aged 8 years and older with pNF and those 12 years and older with cNF or both tumor types, as well as adult caregivers of children with NF1 tumors. They will complete questionnaires either on paper or through phone, computer, or tablet. Participants will also take part in at least one remote focus group or individual interview lasting about an hour. Groups are organized by age ranges and caregiver status to discuss tumor symptoms, appearance, feelings about their appearance, and daily activities. Throughout the study, participants responses will be audio-recorded and transcribed with personal identifiers removed. Researchers will evaluate the new tumor visibility rating scales and an existing appearance concerns measure based on qualitative feedback. The study involves ongoing assessment and discussion to select the best items for measuring tumor visibility and appearance concerns in NF1 patients. The total participation duration varies according to individual involvement in questionnaires and interviews.

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