Incidence of Malignant Peripheral Nerve Sheath Tumor (MPNST) Development in Participants With Neurofibromatosis Type 1 (NF1) Receiving and Not Receiving Medical Therapies Directed at Plexiform Neurofibromas (PN)

NCT ID: NCT04774289

Last Updated: 2024-09-19

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 296 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-02-24
• Study Completion Date: 2022-12-08

Brief Summary

Background:

NF1 is a genetic syndrome. Tumors appear early in life. Many people with NF1 develop PN. These tumors can become an aggressive cancer called MPNST. People with MPNST may benefit from treatment with a MEK inhibitor (MEKi). Researchers want to learn if there is an increased risk of MPNST formation from MEKi treatment in people with NF1. To do this, they will review data that has been collected in NIH NF1 studies.

Objective:

To describe the characteristics of people who have taken part in NF1 studies at NIH and to compare the risk of MPNST formation in those treated with MEKi or other PN-directed treatment.

Eligibility:

People with NF1 who were seen at NIH from Jan. 1, 1998, to Jan. 1, 2020.

Design:

Participants medical records will be reviewed. Participants who opted out of future use of their data will not be included.

Demographic data, like sex, race, and date of birth, will be collected.

Data about MEKi and non-MEKi treatments will be collected.

Clinical data, such as surgery and treatment details, will be collected.

The differences between all participants who were seen at NIH for any NF1 related study will be compared. Participants will be put into 4 groups:

History of MEKi therapy

Treatment with tumor directed therapy other than MEKi

Treatment with both MEKi and non-MEKi tumor directed therapies

No tumor directed medical therapy

Participants with NF1 who were treated for PN with either a MEKi treatment or a non-MEKi treatment will also be compared.

The study will last for 3 to 6 months.

Detailed Description

Study Description: This is a retrospective review that includes all patients with NF1 enrolled on natural history and treatment trials at the National Cancer Institute (NCI) from 1/1/1998 to 1/1/2020, excluding patients referred for treatment of MPNST.

Objective: To describe the clinical and demographic characteristics of NF1 study participants who come for evaluation at the NCI and to compare the risk of MPNST formation in patients treated with MEK 1/2 inhibitor (MEKi) or other PN-directed treatment.

Study Population: All participants with NF1 seen at the NIH from 1/1/1998 to 1/1/2020

Description of Sites/Facilities conducting research: This is a single site study initiated by the Pediatric Oncology Branch at the National Cancer Institute

Study Duration: Data abstraction to completion of data analyses will take 3-6 months.

Conditions

Neurofibromatosis 1; Peripheral Nerve Neoplasms, Malignant

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

1

Participants with NF1 seen at the NIH from 1/1/1998 to 1/1/2020

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• All participants seen at the NIH from 1/1/1998 to 1/1/2020 with a clinical or laboratory diagnosis of NF1
• Participants beyond the neonatal period (4 weeks).

Exclusion Criteria

-All participants seen at the NIH from 1/1/1998 to 1/1/2020 with a clinical or laboratory diagnosis of NF1 who opted out of future use.

• Minimum Eligible Age: 1 Month
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Cancer Institute (NCI)

NIH

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Brigitte C Widemann, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Cancer Institute (NCI)

Locations

National Cancer Institute (NCI)

Bethesda, Maryland, United States

Countries

United States

Other Identifiers

000271-C

Identifier Type: -

Identifier Source: secondary_id

10000271

Identifier Type: -

Identifier Source: org_study_id