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NCT02544022 · National Cancer Institute (NCI)

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

What this study is about

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.

View original scientific description

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. ...

Who can participate

This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.

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:
  • 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 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

  • Washington D.C., District of Columbia
  • Chicago, Illinois
  • Baltimore, Maryland
  • Bethesda, Maryland
  • Cincinnati, Ohio
  • Philadelphia, Pennsylvania

Frequently asked questions

What is a clinical trial?

A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.

Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.

Will I be compensated?

Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.

Will I receive a placebo instead of treatment?

When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.

Can I leave a trial if I change my mind?

Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.

How long does a clinical trial last?

Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.

Data: ClinicalTrials.gov · synced Jul 10, 2026 · Source of record for eligibility and locations

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What participation can include

  • Study-related care provided by the research team
  • Close monitoring by medical professionals
  • Possible compensation for time and travel*
  • The option to withdraw at any time
  • Contributing to medical research that may help future patients

*Compensation varies by study. Confirm details with coordinator.

Typical next steps

  1. 1.Submit this form
  2. 2.Phone screening
  3. 3.In-person assessment if eligible
  4. 4.Begin participation

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Looking for Neurofibromatosis 1 Treatment in Washington D.C.?

Join others in District of Columbia exploring innovative treatment options through clinical research

Neurofibromatosis 1 Treatment Options in Washington D.C., District of Columbia

If you're searching for Neurofibromatosis 1 treatment in Washington D.C., participating in a clinical research study may provide access to innovative approaches under expert medical supervision. This study is actively recruiting participants in Washington D.C., Chicago, Baltimore and surrounding areas.

Clinical trials offer participants the opportunity to receive cutting-edge treatments while contributing to medical research that may help future patients with Neurofibromatosis 1. All study-related care is provided at no cost to participants.

Local Sites
3 locations in District of Columbia
Now Enrolling
Up to 476 participants
Quick Start
Screening available now

Why Consider a Clinical Trial for Neurofibromatosis 1?

Potential Benefits

  • Access to new treatment approaches before public availability
  • Close monitoring by experienced medical professionals
  • Study-related care provided at no cost
  • Contribute to medical research for Neurofibromatosis 1

What to Expect

  • Initial screening to determine eligibility
  • Regular check-ups and monitoring visits
  • Possible compensation for time and travel
  • You can withdraw at any time

Frequently Asked Questions About This Neurofibromatosis 1 Study

Important Clinical Trial Information

This information is provided for educational purposes and does not constitute medical advice. Clinical trial participation involves potential risks and benefits. Eligibility requirements apply and will be assessed during the screening process.

Study identifier: NCT02544022. For complete study details, visit ClinicalTrials.gov. Always consult with your healthcare provider before making decisions about your medical care or participating in clinical research.