Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial

NCT04879160 | Completed

• 2 other identifiers: 10000173000173-C
• Study Type: observational
• Target: 52
• Locations: 1 country
• Sites: 1

Brief Summary

Background: People with Neurofibromatosis type 1 (NF1) have an increased risk of developing plexiform neurofibromas (PNs). PNs are tumors that form in the tissue. They can form anywhere in the body. They can become visible and cause deformations. Researchers want to see if selumetinib changes how PNs look in people with NF1. They also want to test a rating system for the visibility of these tumors. Objective: To see if treatment with selumetinib can improve the appearance of visible PNs in people with NF1, as determined by people who are/are not familiar with NF1. Eligibility: People with NF1 who have one or more visible PNs and have been enrolled in study 11C0161 or 08C0079. Clinicians and non-clinicians with and without experience in NF1 are also needed to serve as raters. Design: Participants are people with NF1 who had photos taken on study 11C0161 or 08C0079. Raters are people who will evaluate the PNs in the photos. They will rate the tumors on a scale from 1 to 10, from less to most visible. Participants medical records will be reviewed. Their photos will be shown to 28 raters. Raters will fill out a survey about their demographics, place of work, and if they are familiar with NF1. They will view sample photos to learn how PNs look and how to rate PNs. Raters will view photos of PNs taken before and after selumetinib treatment. They will also view photos of PNs that were not treated. They will rate PNs for up to 40 participants. They will have 1-2 sessions. Each session will last 1 hour....

Conditions

Neurofibromatosis 1

Keywords

Selumetinib; novel disfigurement scale; Natural History

Outcome Measures

Primary Outcomes (1)

• Evaluation of the degree of changes in disfigurement measures

  Mean scores for disfigurement as determined by raters reviewing photographs before treatment and just prior to cycle 13 of treatment.

  ongoing

Secondary Outcomes (9)

• Differences in the disfigurement scores assigned by raters between cohorts of clinical raters who differ by NF1 familiarity and non-clinical raters who differ by NF1 familiarity

  ongoing

• Correlation between achieving a partial response on selumetinib and having an improvement in PN-related disfigurement

  ongoing

• Intra-reliability of a novel disfigurement scale among raters

  ongoing

• Correlation between the degree of change in disfigurement and percentage of PN volume shrinkage

  ongoing

• Factors most important in causing change in disfigurement

  ongoing

Study Arms (5)

1/ Cohort 1A

Clinician raters familiar with NF1

2/ Cohort 1B

Clinician raters without specific NF1 familiarity

3/ Cohort 2A

Non-clinician raters familiar with NF1

4/ Cohort 2B

Non-clinician raters without specific NF1 familiarity

5/ Cohort 3

Subjects with NF1

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Clinicians and non-clinician raters familiar with NF1; Participants enrolled on NIH protocols 11-C-0161 and 08-C-0079 with NF1 and visible plexiform neurofibromas

You may qualify if:

• Clinician Raters - those who are professionally involved with direct patient care and have a career in the medical field and familiar with NF1 (Cohort 1A), OR
• Clinician Raters - those who are professionally involved with direct patient care and have a career in the medical field but are not familiar with NF1 (Cohort 1B), OR
• Non-clinician Raters - those who are not professionally involved in direct patient care or do not have a career in the medical field, but who are a first or second degree relative of a subject with NF1 or are otherwise closely associated with a subject with NF1 and familiar with NF1 (Cohort 2A), OR
• Non-clinician Raters - those who are not professionally involved in direct patient care or do not have a career in the medical field, and who are not a first or second degree relative of a subject with NF1 and are otherwise not closely associated with a subject with NF1 (Cohort 2B)
• Age greater than or equal to18 years.
• The ability of a subject to understand and the willingness to sign a written informed consent document.
• Ability to read and write in English.

You may not qualify if:

• Raters should not be employees of the NIH.
• Raters should not be directly involved in the NCI Phase 1/2 study of selumetinib (11-C-0161), either as an investigator or as a subject or first-degree family member of a subject enrolled on the trial.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• John L, Singh G, Dombi E, Wolters PL, Martin S, Baldwin A, Steinberg SM, Bernstein J, Whitcomb P, Pichard DC, Dufek A, Gillespie A, Heisey K, Bornhorst M, Fisher MJ, Weiss BD, Kim A, Widemann BC, Gross AM. Development and pilot validation of a novel disfigurement severity scale for plexiform neurofibromas in children with neurofibromatosis type 1. Clin Trials. 2024 Apr;21(2):189-198. doi: 10.1177/17407745231206402. Epub 2023 Oct 25.

  PMID: 37877369 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Neurofibromatosis 1

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

Study Officials

• Andrea M Gross, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: May 7, 2021
• First Posted: May 10, 2021
• Study Start: May 12, 2021
• Primary Completion: August 15, 2022
• Study Completion: August 15, 2022
• Last Updated: March 22, 2024

Record last verified: 2024-03

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 (1)