Actively Recruiting

Age: 5Years +
All Genders
Healthy Volunteers
ID02544022

Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)

Led by National Cancer Institute (NCI) · Updated on 2026-06-01

476

Participants Needed

6

Research Sites

26 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying people with neurofibromatosis 1 (NF1) who have plexiform neurofibromas (pNFs), a condition that can cause pain and affect daily activities. The study aims to improve questionnaires that measure pain, daily living, and physical functioning for individuals with NF1 and pNFs. This research involves two phases, focusing on developing patient-reported outcome measures that can be used in clinical trials to evaluate treatment benefits. The study includes two phases: Phase 1 involved group discussions or one-on-one interviews with children aged 5 to 7 and their parents to review and improve existing pain assessment questionnaires. Phase 2, now complete, involved participants completing the new or revised questionnaires, either on paper or electronically. Some participants completed the forms twice, both in clinic and at home, and those starting or increasing pain treatment completed forms before and after treatment changes. Participants will be involved in completing questionnaires about their pain and daily functioning. These include qualitative group discussions and individual interviews in Phase 1, and repeated questionnaire completion in Phase 2 to assess reliability and validity. The study measures include reliability and feasibility of questionnaires over about eight months. Participants may also provide input on the electronic format of the questionnaires. The total study duration varies by participant depending on phase involvement.

CONDITIONS

Brief Title

Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)

Who Can Participate

Age: 5Years +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Documented neurofibromatosis 1 (NF1) by NIH clinical criteria or molecular testing
  • At least one plexiform neurofibroma (pNF) measuring 3 cm or larger by exam or imaging, or 3 mL or more by volumetric MRI
  • Age 5 years or older for Phase 1; age 8 years or older for Phase 2
  • Ability to understand, read, and speak English
  • Ability and willingness to sign informed consent (patient or parent/guardian)
  • For Phase 1 focus groups: recent pNF-related pain with minimum pain level requirements or use of prescription pain medication
  • For Phase 2: patients with or without recent pNF-related pain as specified
  • Primary caregivers (parents, guardians, grandparents) aged 18 or older of participants 17 years or younger
Not Eligible

You will not qualify if you...

  • Severe cognitive or behavioral impairments preventing cooperation with study procedures
  • Enrollment in a MEK inhibitor trial within the past 12 months
  • Started a new pain treatment regimen (medication, psychosocial therapy, physical therapy, etc.) within 3 months prior to enrollment

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Evaluation of Patient Reported Outcome Measures

Duration - 2 weeks

Participants complete electronic versions of pain intensity and pain interference questionnaires over two weeks to assess reliability, validity, and collect normative data.

2 visits (in-person or electronic completion) over two consecutive weeks

Trial Site Locations

Total: 6 locations

1

Children's National Medical Center

Washington D.C., District of Columbia, United States, 20010

Completed

2

University of Chicago

Chicago, Illinois, United States, 60637

Active, Not Recruiting

3

Johns Hopkins University

Baltimore, Maryland, United States, 21287

Active, Not Recruiting

4

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

5

Cincinnati Children's Hospital and Medical Center Institution

Cincinnati, Ohio, United States, 45229-3039

Completed

6

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States, 19104

Actively Recruiting

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Research Team

P

Pamela L Wolters, Ph.D.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

5

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