Assessing appearance concerns in Neurofibromatosis Type 1 patients
Development of Patient-Reported Outcome Measures Assessing Tumor Visibility and Appearance Concerns in Neurofibromatosis Type 1: A Qualitative Study
This study is trying to understand how appearance-related concerns affect people with Neurofibromatosis Type 1 by gathering their thoughts and experiences through questionnaires and discussions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 110 (estimated) |
| Ages | 5 Years to 120 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT06880991 on ClinicalTrials.gov |
What this trial studies
This study aims to develop and evaluate patient-reported outcome measures that assess disfigurement and appearance-related concerns in individuals with Neurofibromatosis Type 1 (NF1). Participants aged 8 and older with plexiform or cutaneous neurofibromas will complete questionnaires and participate in focus groups or interviews to provide qualitative feedback on their experiences. The goal is to refine these measures for use in future clinical trials, ensuring they accurately reflect the psychosocial impact of these tumors on patients' lives.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 8 years and older with visible plexiform or cutaneous neurofibromas, as well as caregivers of affected children.
Not a fit: Patients without visible tumors or those who do not meet the age criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to validated tools that better capture the impact of NF1-related disfigurement on patients' quality of life.
How similar studies have performed: While there have been studies focusing on patient-reported outcomes in other conditions, this specific approach for NF1-related disfigurement is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Staci M Peron, Ph.D. — National Cancer Institute (NCI)
- Study coordinator: Staci M Peron, Ph.D.
- Email: martins@mail.nih.gov
- Phone: (240) 760-6025
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.