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

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Brief Title

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

Official Title

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

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.
    

Detailed Description

      Background:

        -  Neurofibromatosis 1 (NF1) is a genetic disease with multiple clinical manifestations,
           including plexiform neurofibromas (pNFs) that can cause pain and may significantly
           impact daily functioning and quality of life (QOL).

        -  Patient-reported outcomes (PROs) are useful in trials for conditions that are disabling
           and chronic like NF1, where symptom reduction and improved functioning and QOL currently
           are important treatment outcomes, which may occur with pNF shrinkage.

        -  A critical step toward approval of drugs to treat pNFs is to evaluate clinical benefit
           in conjunction with a reduction in tumor volume as assessed by imaging endpoints.

        -  The FDA requests the use of PROs in NF1 clinical trials, especially for assessing
           changes in symptoms, such as pain.

        -  Currently, no valid PRO measures exist that are specific to the NF1 population to assess
           pNF pain or its functional impact on an individual s life.

      Objectives:

        -  Phase 1: Qualitative Evaluation - COMPLETE

           --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, pNFs and pain to use as endpoints in clinical trials
           for individuals with NF1 and pNFs.

        -  Phase 2: Evaluation of Psychometric Properties and Collection of Normative Data

        -  To evaluate final versions of the NRS-11 (now called the PAin INtensity Scale for pNF
           [PAINS-pNF]) and PII (now called the Pain Interference Index for pNF [PIIpNF]) measures
           on reliability, validity, and feasibility in individuals with NF1 and pNFs.

      Eligibility:

      -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 (pNF) that is at least 3cm on longest diameter by physical exam (i.e. visual
      exam, palpation) or 2D MR imaging OR >=3mL by volumetric MR imaging.

      Patients must be at least 8 years of age and able to understand, read, and speak English.

        -  Patients will be ineligible if they were enrolled on a MEK inhibitor trial in the past
           12 months or began a new pain treatment regimen (e.g., medication, psychosocial therapy,
           physical therapy, etc.) within the past three months at the time of recruitment.

        -  Primary caregivers (i.e. parent, guardian, grandparent) of participants younger than 18
           years old are also eligible to participate in order to provide parent report information
           to further validate the PII-pNF questionnaire for parents.

      Design:

      This protocol will be a multi-institutional research study to maximize our ability to assess
      a large, diverse sample of individuals with NF1.

      This study will consist of 2 phases. During the first phase, we conducted the qualitative
      portion of the study with individuals with NF1, ages >=5 years, most with pNF-related pain,
      using both focus groups and individual interviews. During Phase 2, we will evaluate the final
      electronic versions of the PAINS-pNF and the PII-pNF using a micro-longitudinal design to
      examine internal consistency, construct validity, and test-retest reliability, and to provide
      normative data on the study measures for the NF1 population.

      Our goal for phase 2 is to recruit between 14 to 16 patients, with a target of 15 in each of
      the eight phase 2 age bands for an approximate ceiling of 128 patients >=8 years old (target
      = 120) and 48 parents of children 8-17 years old (target = 45). All patients and parents will
      be asked to complete the measures two weeks in a row to examine test-retest reliability.
    


Study Type

Observational


Primary Outcome

Realiability

Secondary Outcome

 To provide normative data

Condition

Neurofibromatosis 1


Study Arms / Comparison Groups

 1/Phase 1 Focus Group
Description:  Patients with NF1 who have PNs and report experiencing pNF related pain and parents of these patients. (completed)

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

486

Start Date

November 13, 2015

Completion Date

February 28, 2023

Primary Completion Date

February 28, 2023

Eligibility Criteria

        -  SUBJECT INCLUSION CRITERIA:

          -  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. 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 >=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 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.
      

Gender

All

Ages

5 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Pamela L Wolters, Ph.D., (240) 760-6035, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02544022

Organization ID

150195

Secondary IDs

15-C-0195

Responsible Party

Sponsor

Study Sponsor

National Cancer Institute (NCI)


Study Sponsor

Pamela L Wolters, Ph.D., Principal Investigator, National Cancer Institute (NCI)


Verification Date

March 25, 2022