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

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ClinicalTrials.gov Identifier: NCT02544022
Recruitment Status : Recruiting
First Posted : September 9, 2015
Last Update Posted : March 2, 2018
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 (PNs) 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 PNs.


People ages 5 and older with NF1 and a PN


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 PNs affect their life. They will have group discussions of up to 8 people of a similar age with NF1 and PNs, 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 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

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 438 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (PNs)
Study Start Date : September 5, 2015
Estimated Primary Completion Date : February 28, 2019
Estimated Study Completion Date : February 28, 2019

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

Secondary Outcome Measures :
  1. To provide normative data on these measures of pain intensity, pain interference, and physical functioning in individuals with NF1 and PNs [ Time Frame: 8 months ]
  2. To assess the psychometric properties and provide normative data for the Adult version of the Impact of Pediatric Illness (IPI) Scale [ Time Frame: 8 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 99 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
  • Documented NF1 either by NIH clinical criteria or molecularly-proven mutation in the NF1 gene AND Greater than or equal to 1 plexiform neurofibroma in any location that is either symptomatic or asymptomatic, and is defined by the following:

    1. 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. measures greater than or equal to 3cm on longest diameter by visual exam, palpation or 2D MR imaging OR greater than or equal to 3mL by volumetric MR imaging.
  • Age greater than or equal to 5 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 and speak the English language.
  • For phase 1 focus groups only, patients need to report experiencing PN 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 PN related pain recently with a minimum pain level of 1 on the current NRS-11.
  • For phase 2, participants in the group evaluating sensitivity to change will need to be starting a new pain medication regimen or increasing the dose of their existing pain medication, or starting a drug to reduce PN size.
  • Parent or Guardian Inclusion Criteria
  • Parent or Guardian of participating subject
  • Participants must be able to understand 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.
  • For phase 2, patients participating in the test-retest subgroup cannot be enrolled on a clinical trial or cannot have started a new pain treatment regimen at their appointment (e.g., medication, therapy, physical therapy, etc.)

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 ClinicalTrials.gov identifier (NCT number): NCT02544022

Contact: Pamela L Wolters, Ph.D. (240) 760-6035 woltersp@mail.nih.gov

United States, District of Columbia
Children's National Medical Center Recruiting
Washington, District of Columbia, United States
United States, Illinois
University of Chicago Recruiting
Chicago, Illinois, United States, 60637
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
Sponsors and Collaborators
National Cancer Institute (NCI)
Principal Investigator: Pamela L Wolters, Ph.D. National Cancer Institute (NCI)

Additional Information:
Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT02544022     History of Changes
Other Study ID Numbers: 150195
First Posted: September 9, 2015    Key Record Dates
Last Update Posted: March 2, 2018
Last Verified: February 23, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Pain Scale
Tool Validation
Cognitive Interviews

Additional relevant MeSH terms:
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