Improving questionnaires for pain and daily life in neurofibromatosis 1 patients

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

Observational National Institutes of Health Clinical Center (CC) · NCT02544022

This study is trying to improve pain questionnaires for people with neurofibromatosis 1 to better understand how their condition affects their daily lives.

Quick facts

Study typeObservational
Enrollment476 (estimated)
Ages5 Years and up
SexAll
SponsorNational Institutes of Health Clinical Center (CC) NIH
Locations6 sites (Washington D.C., District of Columbia and 5 other locations)
Trial IDNCT02544022 on ClinicalTrials.gov

What this trial studies

This study focuses on enhancing patient-reported outcome measures for individuals with neurofibromatosis 1 (NF1) and plexiform neurofibromas (pNFs). It involves two phases: the first phase includes group discussions and interviews to gather qualitative feedback on existing pain assessment tools, while the second phase will evaluate the psychometric properties of the revised questionnaires. The goal is to create valid measures that accurately reflect the pain and functional impact of pNFs on patients' lives, which can be used in future clinical trials. Participants will be ages 5 and older, and the study will take place at multiple prominent medical institutions.

Who should consider this trial

Good fit: Ideal candidates are individuals aged 5 and older diagnosed with neurofibromatosis 1 and having at least one plexiform neurofibroma.

Not a fit: Patients without a diagnosis of neurofibromatosis 1 or those without plexiform neurofibromas may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to more accurate assessments of pain and quality of life for patients with NF1 and pNFs, ultimately improving their treatment outcomes.

How similar studies have performed: Other studies have successfully utilized patient-reported outcomes in similar conditions, indicating a promising approach for this population.

Eligibility criteria

Show full inclusion / exclusion criteria
* SUBJECT INCLUSION CRITERIA:
* Documented NF1 either by NIH clinical criteria or molecularly-proven mutation in the

NF1 gene, PER the Neurofibromatosis Diagnostic Criteria AND \>=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 \>=3 cm on longest diameter by visual exam, palpation or 2D MR imaging OR \>=3 mL 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 with pain, 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.
   * For phase 2 patients without pain, patients need to report no recent pNF-related pain. Specifically, they will be asked if they recently experienced any pain in a target tumor area and will have to respond no to be eligible.

PRIMARY CAREGIVER INCLUSION CRITERIA:

* 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

EXCLUSION CRITERIA:

* 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.

Where this trial is running

Washington D.C., District of Columbia and 5 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Neurofibromatosis 1Plexiform NeurofibromasPain ScaleQOLTool ValidationCognitive InterviewsNatural History
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.