Recruiting

Patient Reported Outcome Measures for Neurofibromatosis 1 and Plexiform Neurofibromas

Study Aim

This study aims to evaluate and refine tools for measuring pain and physical functioning in patients with Neurofibromatosis 1 and plexiform neurofibromas to improve their use in future clinical trials.

What is being collected

Data Collection

Collected from today forward - Prospective

Who is being recruted

Congenital, Hereditary, and Neonatal Diseases and Abnormalities+16

+ Neoplasms

+ Neoplasms by Histologic Type

Over 5 Years

+13 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.

Observational

Study Start: November 2015

See protocol details

Summary

Principal SponsorNational Cancer Institute (NCI)

Study ContactPamela L Wolters, Ph.D.

Last updated: January 28, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: November 13, 2015

Actual date on which the first participant was enrolled.

This clinical trial focuses on developing and validating tools that help understand how neurofibromatosis 1 (NF1), a genetic condition, affects individuals, particularly when associated with plexiform neurofibromas (pNFs). These non-cancerous tumors can cause significant pain and impact daily life. The study aims to create reliable and specific patient-reported outcome (PRO) measures to assess pain and its interference with daily activities in individuals with NF1. This is important because having accurate tools can improve how treatments are evaluated, especially in clinical trials, and ultimately lead to better care and quality of life for those affected. Participants in this study include individuals with confirmed NF1 and at least one measurable plexiform neurofibroma. They should be 8 years or older and capable of understanding and communicating in English. The study involves two phases. The first phase completed the initial evaluation of existing pain measurement tools through patient feedback. In the second phase, the study assesses the final versions of these tools for reliability and effectiveness by having participants, including parents of young patients, complete questionnaires over two consecutive weeks. The study aims to gather comprehensive data to ensure these tools can be effectively used in future NF1-related trials.

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

NCT02544022

Principal SponsorNational Cancer Institute (NCI)

Study ContactPamela L Wolters, Ph.D.

Last updated: January 28, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

476 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Conditions

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Over 5 Years

Range of ages for which participants are eligible to join.

Healthy volunteers allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesNeoplasmsNeoplasms by Histologic TypeNeoplasms, Nerve TissueNeoplastic Syndromes, HereditaryNervous System DiseasesNervous System NeoplasmsNeurofibromaNeurofibromatosis 1Neuromuscular DiseasesPeripheral Nervous System DiseasesPeripheral Nervous System NeoplasmsNeurofibromatosesNerve Sheath NeoplasmsNeurofibroma, PlexiformNeurodegenerative DiseasesHeredodegenerative Disorders, Nervous SystemNeurocutaneous SyndromesGenetic Diseases, Inborn

Criteria

11 inclusion criteria required to participate

For phase 2, Age \>= 8 years

Participants must be able to understand, read, and speak the English language.

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.

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.

Show More Criteria

2 exclusion criteria prevent from participating

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.

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 6 locations

Recruiting

National Institutes of Health Clinical Center

Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google Maps

Recruiting

Children's Hospital of Philadelphia

Philadelphia, United States

Completed

Children's National Medical Center

Washington D.C., United States

Suspended

University of Chicago

Chicago, United States

Recruiting

6 Study Centers