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)

NCT04774289 | Completed

• 2 other identifiers: 10000271000271-C
• Study Type: observational
• Target: 296
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis 1; Peripheral Nerve Neoplasms, Malignant

Keywords

Retrospective Review; Natural History; genetic tumor predisposition syndrome

Outcome Measures

Primary Outcomes (1)

• risk of MPNST formation

  descriptive statistics and frequency distribution of selected variables

  ongoing

Study Arms (1)

1

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

Eligibility Criteria

• Age: 1 Month+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

primary clinical

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Cancer Institute (NCI)

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

Neurofibromatosis 1; Peripheral Nervous System Neoplasms

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; Nervous System Neoplasms; Neoplasms by Site

Study Officials

• Brigitte C Widemann, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: February 26, 2021
• First Posted: March 1, 2021
• Study Start: February 24, 2021
• Primary Completion: March 1, 2022
• Study Completion: December 8, 2022
• Last Updated: September 19, 2024

Record last verified: 2024-06-24

Locations

US (1)