Developing Biomarkers of Plexiform Tumor Burden in Patients With Neurofibromatosis-Type 1

NCT05238909 | Enrolling By Invitation

• 3 other identifiers: 2022-49287R61NS122094-024R33NS122094-03
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to identify tumor biomarkers in individuals with Neurofibromatosis type 1 (NF1). Biomarkers are signals that the investigator can measure that tell us about a process such as progress of a disease or treatment. Individuals with this diagnosis are at an elevated risk of developing a type of tumor called a plexiform neurofibroma. Currently, detecting the risk factors of these tumors in children is difficult and requires whole body imaging. The NF1 team at Lurie Children's established a way of using blood plasma in mice with neurofibromatosis type 1 to identify biomarkers that might signal the presence of tumors in people with NF1. This study is an effort to create biomarker profiles of patients with NF1 with known tumors. The study team will utilize whole-body MRI and mass spectrometry (a method for identifying unknown compounds and the properties of molecules). The ultimate goal of this study is to better understand the tumor biomarkers in patients with NF1.

Conditions

Neurofibromatosis 1; NF1; Neurofibromatosis Type 1

Keywords

NF1; Plexiform neurofibromas; neurofibromatosis type 1; neurofibromas

Outcome Measures

Primary Outcomes (5)

• Determine if glucosylceramide (GC) and lactosylceramide (LC) species levels correlate with tumor burden in patients with NF1

  The investigator and team will collect blood samples from individuals with NF1 stratified plexiform tumor (PNF) burden (none, small, intermediate, and large) versus age and sex matched healthy control.

  1 year

• Test if tumor burden correlates with GC and LC signature in individuals with NF1 who are undergoing clinical treatment with MEK inhibitors

  The investigator and team will enroll 20 individuals with NF1 and inoperable PNFs in treatment with MEK inhibitors to correlate biomarker with tumor burden changes with therapy.

  1 year

• Assemble a longitudinal cohort of individuals with NF1 with plexiform neurofibromas (n=100) for deep phenotyping and tumor burden response to MEK inhibitors

  Whole-body MRI at baseline and at time of annual visit (9-to-18-month intervals) will be used to deeply phenotype individuals based on tumor burden and tumor volume. Individuals will undergo plasma collection and clinical history assessment (medications, diet log, supplements, and anthropometric measurements) at each visit. For patients undergoing treatment with MEK inhibitors, a sample prior to treatment will be collected during this study.

  1 year

• Determine if glucosylceramide (GC) and lactosylceramide (LC) signature correlates with plexiform neurofibroma burden change in longitudinal cohort of 100 individuals with PNFs

  The investigator and team will test GC/LC levels using validated mass spectrometry target method for quantification of these biomarkers.

  1 year

• Tumor volumetric analysis will be performed to correlate with GC/LC monitoring biomarker signature

  GC/LC biomarker thresholds (cut-off) will be refined to evaluate predictive ability to identify individuals with large tumor burden. Tumor burden will be measured from whole-body MRI analysis with post-imaging processing software.

  1 year

Eligibility Criteria

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

Study Population

Patients from the NF1 Clinical Program at Lurie Children's Hospital of Chicago

You may qualify if:

• \. Individuals with known diagnosis of neurofibromatosis type 1 (NF1)

You may not qualify if:

• Patient does not meet NF1 diagnostic criteria
• Mosaic NF1 individuals
• Pregnant at Screening
• Patients who do not have the ability/capacity to undergo the informed consent process OR whose parent/legal guardian is unable to undergo the informed consent process.

Sponsors & Collaborators

• Ann & Robert H Lurie Children's Hospital of Chicago: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Children's Hospital Medical Center, Cincinnati: collaborator

Study Sites (1)

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

Related Publications (27)

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Biospecimen

Retention: SAMPLES WITH DNA

Blood plasma, DNA, and RNA

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibroma, Plexiform; Neurofibroma

Condition Hierarchy (Ancestors)

Neurofibromatoses; 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; Peripheral Nervous System Neoplasms; Nervous System Neoplasms

Study Officials

• Carlos Prada, MD

  Ann & Robert H Lurie Children's Hospital of Chicago

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 19, 2022
• First Posted: February 14, 2022
• Study Start: March 4, 2022
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: September 2, 2025

Record last verified: 2025-08

Locations

US (1)