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

NCT02544022 | Recruiting

• 2 other identifiers: 15019515-C-0195
• Study Type: observational
• Target: 476
• Locations: 1 country
• Sites: 6

Brief Summary

Background: 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. Objectives: To examine and improve questionnaires about daily living for people with NF1 and pNFs. Eligibility: People ages 5 and older with NF1 and a pNF Design: 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.

Conditions

Neurofibromatosis 1; Plexiform Neurofibromas

Keywords

Pain Scale; QOL; Tool Validation; Cognitive Interviews; Natural History

Outcome Measures

Primary Outcomes (2)

• Realiability

  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.

  8 months

• Feasability

  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)

  8 months

Secondary Outcomes (2)

• To provide normative data

  8 months

• Convert the measures into electronic format

  8 months

Study Arms (5)

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

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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:
• 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;
• 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 (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

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (6)

Children's National Medical Center

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

COMPLETED

University of Chicago

Chicago, Illinois, 60637, United States

ACTIVE NOT RECRUITING

Johns Hopkins University

Baltimore, Maryland, 21287, United States

ACTIVE NOT RECRUITING

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Cincinnati Children's Hospital and Medical Center Institution

Cincinnati, Ohio, 45229-3039, United States

COMPLETED

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibroma, Plexiform

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Peripheral Nervous System Neoplasms; Nervous System Neoplasms

Study Officials

• Pamela L Wolters, Ph.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Pamela L Wolters, Ph.D.

CONTACT

(240) 760-6035; woltersp@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 5, 2015
• First Posted: September 9, 2015
• Study Start: November 13, 2015
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: April 24, 2026

Record last verified: 2025-11-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, 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.

Locations

US (6)