Clinical trial NCT04774289: 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)
Official title: Incidence of Malignant Peripheral Nerve Sheath Tumors Development in Patients With Neurofibromatosis Type 1 Receiving and Not Receiving Medical Therapies Directed at Plexiform Neurofibromas
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neurofibromatosis 1
Peripheral Nerve Neoplasms, Malignant
Keywords: Retrospective Review
Natural History
genetic tumor predisposition syndrome
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2021-03-01
Enrollment: 296
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: primary clinical

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.

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.

Primary outcomes:
measure: risk of MPNST formation
timeFrame: ongoing
Secondary outcomes:
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Cancer Institute (NCI)
state: Maryland
Study officials:
affiliation: National Cancer Institute (NCI)
name: Brigitte C Widemann, M.D.
role: PRINCIPAL_INVESTIGATOR
References: