Multi-parametric Biomarker Development to Predict Malignant Conversion in Patients With Neurofibromatosis Type 1

NCT05677594 | Active Not Recruiting

• 1 other identifier: IRB00268132
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this prospective observational study is to learn about the utility of imaging and clinical features in patients with Neurofibromatosis type 1 categorized as high risk for the development of malignant peripheral nerve sheath tumors. The main objectives are:

• To evaluate the prevalence, multi-parametric imaging features of distinct nodular lesions ("DNLs") and natural history in people with NF1 with clinical and genetic features deemed "high-risk" for malignancy.
• To assess the relationship between individual clinical, genetic and imaging factors that have been suggested to be risk factors for malignant peripheral nerve sheath tumors (MPNST) and the confirmation of atypical neurofibromas (aNF)/ atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) or MPNST on pathology. In this research study, the participants will be asked to undergo whole body MRI, provide blood sample and clinical evaluation annually.

Conditions

Neurofibromatosis 1; Malignant Peripheral Nerve Sheath Tumor (MPNST) of Soft Tissue (Diagnosis); Atypical Neurofibroma

Keywords

Whole Body Magnetic Resonance Imaging; Biomarker

Outcome Measures

Primary Outcomes (1)

• Prevalence of distinct nodular lesions in people with NF1 associated pNF

  Prevalence of distinct nodular lesions in people with NF1 associated pNF and clinical or genetic factors that are hypothesized to be "high risk" for MPNST

  4 years

Secondary Outcomes (4)

• Imaging features of distinct nodular lesions

  4 years

• Incidence of new distinct nodular lesions

  4 years

• Imaging features of pNF

  4 years

• Histology of distinct nodular lesions

  4 years

Interventions

Whole Body Magnetic Resonance Imaging DIAGNOSTIC_TEST

Magnetic resonance imaging of the entire body from skull base through distal thighs/knees without contrast material

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

High risk persons with NF1 based on genetic testing (microdeletion, family/personal history of atypical NF, ANNUBP, MPNST, prior radiation treatment, large plexiform neurofibroma burden)

You may qualify if:

• The term "high risk" is defined as:
• high pNF burden defined as 1 pNF \> 3 cm or \> 1 pNF
• diagnosis of whole-gene deletion ("microdeletion") of the NF1 gene on genetic testing
• prior history of atypical or malignant PNST
• family or personal history of MPNST or atypical PNST
• prior radiation treatment

You may not qualify if:

• Pregnancy
• inability to tolerate MRI or 18F-FDG-PET/CT imaging without anesthesia
• ongoing NF1-related intervention (including systemic steroids) or therapy that may alter the anatomic, metabolic or functional MRI appearance of the PNSTs.

Sponsors & Collaborators

• Johns Hopkins University: lead
• Neurofibromatosis Therapeutic Acceleration Program: collaborator

Study Sites (1)

Johns Hopkins University

Baltimore, Maryland, 21287, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibrosarcoma; Disease

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; Fibrosarcoma; Neoplasms, Fibrous Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Sarcoma; Peripheral Nervous System Neoplasms; Nervous System Neoplasms; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Shivani Ahlawat, PhD

  Johns Hopkins School of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 9, 2022
• First Posted: January 10, 2023
• Study Start: July 1, 2021
• Primary Completion (Estimated): June 30, 2028
• Study Completion (Estimated): June 30, 2028
• Last Updated: January 12, 2026

Record last verified: 2026-01

Locations

US (1)