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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02544022
Recruitment Status : Recruiting
First Posted : September 9, 2015
Last Update Posted : August 12, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Brief Summary:


People with neurofibromatosis 1 (NF1) who have plexiform neurofibromas (pNFs) can have pain that affects their daily lives. This study aims to improve questionnaires that measure their pain, daily living, and physical functioning.


To examine and improve questionnaires about daily living for people with NF1 and pNFs.


People ages 5 and older with NF1 and a pNF


Participants will be screened with medical history.

This study will have 2 phases.

Phase 1 participants will talk about existing pain assessment questionnaires and how pNFs affect their life. They will have group discussions of up to 8 people of a similar age with NF1 and pNFs, or the parents of children with it. These will last about 90 minutes. Children ages 5 to 7 and their parents will have one-on-one meetings instead. These will last about 45 minutes. Discussions will be audiotaped. After the questionnaires have been changed, individual interviews will discuss the new wording, instructions, questions, and electronic format of the new forms.

Phase 2 is now complete.

Phase 1 participants may be invited to Phase 2.

Phase 2 participants will complete the new questionnaires. These may be pen-and-paper or electronic. The questionnaires will take about 30 minutes for adults and teens. Children will work one-on-one with a staff member and may need up to 45 minutes. A small group of participants will be complete the forms twice-in clinic and 1 month later at home. Also, a small group who start a new pain treatment or have a dose increase in their treatment will complete the forms twice-before the treatment change and 1 month later.


Condition or disease
Neurofibromatosis 1 Plexiform Neurofibromas

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Study Type : Observational
Estimated Enrollment : 486 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)
Actual Study Start Date : November 13, 2015
Estimated Primary Completion Date : February 28, 2023
Estimated Study Completion Date : February 28, 2023

1/Phase 1 Focus Group
Patients with NF1 who have PNs and report experiencing pNF related pain and parents of these patients. (completed)
2/Phase 1 Patients
Patients with NF1 who have pNFs(completed)
3/Phase 1 Parent
Parents of patients in cohort 2 (completed)
4/Phase 2 Patients
Patients with NF1 who have pNFs and recent pNF-related pain
5/Phase 2 Parents
Parents of patients (ages 8-17 years) enrolled in cohort 4

Primary Outcome Measures :
  1. Realiability [ Time Frame: 8 months ]
    To evaluate final versions of the NRS-11, PII, and PROMIS-PF measures on reliability, validity, sensitivity to change, and feasibility in individuals with NF1 and PNs.

  2. Feasability [ Time Frame: 8 months ]
    To evaluate current modifications and the need for any additional modifications to existing measures of pain intensity (Numeric Rating Scale; NRS-11) and pain interference (Pain Interference Index; PII) and select the most appropriate items to measure physical functioning (PROMIS Physical Functioning; PROMIS-PF) in NF1 based on qualitative feedback from patients with NF1, PNs and pain to use as endpoints in clinical trials for individuals with NF1 and PNs. (completed)

Secondary Outcome Measures :
  1. To provide normative data [ Time Frame: 8 months ]
    To provide normative data on these measures of pain intensity and pain interference in individuals with NF1 and pNFs

  2. Convert the measures into electronic format [ Time Frame: 8 months ]
    Convert the measures (including any changes) into an electronic format.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with documented NF1 either by NIH clinical criteria or molecularly-proven mutation in the NF1 gene will be included in the study. Patients must have at least 1 plexiform neurofibroma (PN) that is at least >3cm on physical exam or >3mL on volumetric MRI. Patients must be at least 5 years of age and able to understand and speak English.
  • Documented NF1 either by NIH clinical criteria or molecularly-proven mutation in the

NF1 gene AND

>=1 plexiform neurofibroma in any location that is either symptomatic or asymptomatic, and is defined by the following:

  1. <TAB>a neurofibroma that has grown along the length of a nerve and may involve multiple fascicles and branches OR a spinal neurofibroma that involves two or more levels with connection between the levels or extending laterally along the nerve OR a skin thickness neurofibroma;
  2. <TAB>measures >=3cm on longest diameter by visual exam, palpation or 2D MR imaging OR >=3mL by volumetric MR imaging.

    • For phase 1, Age >=5 years. (complete) For phase 2, Age >= 8 years
    • Ability of subject or parent or guardian to understand and the willingness to sign a written informed consent document.
    • Participants must be able to understand, read, and speak the English language.
    • For phase 1 focus groups only, patients need to report experiencing pNF related pain recently with a minimum pain level of 3 on the current NRS-11 or report taking prescription medication that reduces pain and experiencing pNF related pain recently with a minimum pain level of 1 on the current NRS-11. (complete)
    • For phase 2, Patients need to report recently experiencing at least a minimal amount of pNF-related pain. Specifically, they will be asked if they recently experienced any pain in a target tumor area and will have to respond yes to be eligible..


  • Primary caregiver (i.e. parent,guardian, grandparent) who is >= 18 years old of participating subject <= 17 years old
  • Participants must be able to understand, read, and speak the English language


  • Patients with severe cognitive or behavior impairments who, in the judgment of the investigators, would not be able to cooperate with the study procedures will be excluded.
  • Patients cannot be newly enrolled on a clinical trial to treat their pNF or cannot have started a new pain treatment regimen (e.g., medication, psychosocial therapy, physical therapy, etc.) at the time of enrollment. Specifically, patients will be ineligible if they were enrolled on a MEK inhibitor trial in the past 12 months or began a new pain

medication or treatment within the past 3 months prior to enrollment on this study.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02544022

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Contact: Pamela L Wolters, Ph.D. (240) 760-6035

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United States, District of Columbia
Children's National Medical Center Recruiting
Washington, District of Columbia, United States, 20010
Contact: Karin Walsh    202-476-3923   
United States, Illinois
University of Chicago Recruiting
Chicago, Illinois, United States, 60637
Contact: Cynthia MacKenzie    Not Listed   
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    888-624-1937      
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229-3039
Contact: Elizabeth Schorry    513-636-4760   
Sponsors and Collaborators
National Cancer Institute (NCI)
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Principal Investigator: Pamela L Wolters, Ph.D. National Cancer Institute (NCI)
Additional Information:
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Responsible Party: National Cancer Institute (NCI) Identifier: NCT02544022    
Other Study ID Numbers: 150195
First Posted: September 9, 2015    Key Record Dates
Last Update Posted: August 12, 2022
Last Verified: March 25, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: .All IPD recorded in the medical record will be shared with intramural investigators upon request.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Time Frame: Clinical data available during the study and indefinitely.
Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Pain Scale
Tool Validation
Cognitive Interviews
Natural History
Additional relevant MeSH terms:
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Neurofibromatosis 1
Neurofibroma, Plexiform
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms