Assessing appearance concerns in Neurofibromatosis Type 1 patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• How common NF1 is in Egypt and how it progresses and is treated

  This project will look at people in Egypt with neurofibromatosis type 1 to see how common it is, what symptoms they have, how it changes over time, and how it is managed.

  Recruiting at 5 sites AstraZeneca · Al Mansurah and 8 other locations · NCT07221331

• Imlygic (T-VEC) injections for cutaneous neurofibromas in adults with NF1

  This trial will test whether injecting Imlygic into bothersome cutaneous neurofibromas can shrink them or reduce symptoms in adults with NF1 who want local treatment.

  Recruiting Phase 1 Johns Hopkins University · Baltimore, Maryland · NCT07102394

• Evaluating HLX-1502 for Neurofibromatosis Type 1

  This study is testing a new treatment called HLX-1502 to see if it can help adults with Neurofibromatosis Type 1 who have growing or painful tumors.

  Recruiting at 14 sites Phase 2 Healx Limited · Birmingham, Alabama and 13 other locations · NCT06541847

• Pupillometry to measure pain and sensory problems in people with NF1

  This study will test whether the AlgometRx Nociometer, a pupillometry device, can measure pain and other sensory problems in children and adults with NF1.

  Recruiting at 2 sites National Institutes of Health Clinical Center (CC) · Washington D.C., District of Columbia and 1 other locations · NCT06507748

• Assessing the burden of rare skin diseases

  This study is trying to understand how nine rare skin diseases affect the daily lives of patients and their families, including their emotional, social, and financial challenges.

  Recruiting at 6 sites Institut National de la Santé Et de la Recherche Médicale, France · Bobigny and 14 other locations · NCT05954416

• Using cryotherapy to treat neurofibromas in patients with Neurofibromatosis Type 1

  This study is testing if using extreme cold to treat tough tumors can help people with Neurofibromatosis Type 1 feel better without needing surgery.

  Recruiting Centre Leon Berard · Lyon · NCT05199376

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.