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

Recruiting

• Conditions: Neurofibromatosis 1; NF1; Neurofibromatosis Type 1

• Registration Number: NCT05238909
• Lead Sponsor: Ann & Robert H Lurie Children's Hospital of Chicago

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2022-1-19
• Last Update Posted: 2 September 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

Inclusion Criteria:<br><br> 1. Individuals with known diagnosis of neurofibromatosis type 1 (NF1)<br><br>Exclusion Criteria:<br><br> 1. Patient does not meet NF1 diagnostic criteria<br><br> 2. Mosaic NF1 individuals<br><br> 3. Pregnant at Screening<br><br> 4. Patients who do not have the ability/capacity to undergo the informed consent<br> process OR whose parent/legal guardian is unable to undergo the informed consent<br> process.

Exclusion Criteria

Not provided

Study & Design

• Study Type: Observational [Patient Registry]
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Determine if glucosylceramide (GC) and lactosylceramide (LC) species levels correlate with tumor burden in patients with NF1;Test if tumor burden correlates with GC and LC signature in individuals with NF1 who are undergoing clinical treatment with MEK inhibitors;Assemble a longitudinal cohort of individuals with NF1 with plexiform neurofibromas (n=100) for deep phenotyping and tumor burden response to MEK inhibitors;Determine if glucosylceramide (GC) and lactosylceramide (LC) signature correlates with plexiform neurofibroma burden change in longitudinal cohort of 100 individuals with PNFs;Tumor volumetric analysis will be performed to correlate with GC/LC monitoring biomarker signature