Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.

NCT02777775 | Completed DMC

• 1 other identifier: 2014-295
• Study Type: observational
• Target: 71
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of the research study is intended to use specimens (such as tissue) and medical information in the Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute for laboratory research in Grand Rapids, Michigan. Small tissue samples of cutaneous neurofibromas will be collected as part of this research. The samples will help researchers learn more about cutaneous neurofibroma and help them better understand NF1. There are many different types of studies, both now and in the future, that can be done using the specimens the investigators receive. These include using the specimens and information to look for new ways to diagnose and treat Neurofibromatosis Type 1 (NF1). The specimens may be used to study how genes affect health and disease, or how genes affect the way a disease or condition responds to treatment. Some of these studies may lead to new products, such as treatments or tests for diseases. Through this study, the investigators hope to find better ways to understand and treat NF1 in the future.

Conditions

Cutaneous Neurofibromas; Neurofibromatosis Type 1; Plexiform Neurofibromas

Keywords

NF1; CNF; PNF; Skin Tumors

Outcome Measures

Primary Outcomes (1)

• Tissue Harvesting via Tissue Excision - up to 74 CNFs will be collected from patients to obtain 8 tumors in three size categories: <5mm, 5-10mm, and >1cm. CNFs will be determined based on examiner's experience.

  Identify which genomic factors are important to CNF progression, and find matching drugs that can shrink the tumors and improve quality of life.

  2 Years

Secondary Outcomes (1)

• UV Exposure and NF1 History Questionaires

  2 Years

Interventions

Skin Biopsy PROCEDURE

The procedure to sample the cutaneous neurofibroma involves a skin incision and will take approximately 10 to 15 minutes. The tissue will be taken in the following way: * The skin area will be cleaned * The skin area will be numbed (by either a numbing cream or a tiny numbing shot) * Cutaneous (skin) Neurofibroma: will be taken via a small incision and removal of the neurofibroma whenever possible. * A small piece of normal (skin) tissue will be numbed as above and taken using a special skin biopsy device. Afterward, the area will be cleaned and the skin put back together with medical super glue or 1 to 2 dissolvable stitches that will dissolve as the incision heals, they do not require removal. The purpose of taking this piece of skin is to compare normal skin with the skin of a cutaneous neurofibroma.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Anyone with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.

You may qualify if:

• Any subject with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
• Age \>18 years.

You may not qualify if:

• Adults with diminished decision-making capacity with no defined legal guardian.
• Prisoners.
• Pregnant women.
• \) Breastfeeding mothers.

Sponsors & Collaborators

• Corewell Health West: lead
• Van Andel Research Institute: collaborator

Study Sites (1)

Spectrum Health Hospital Group

Grand Rapids, Michigan, 49503, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Harvesting CNFs from 3 groups of subjects in order to obtain a minimum of 18 tumors in three size categories: \<5mm, 5-10mm, and \>1cm

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibroma, Plexiform; Skin 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; Peripheral Nervous System Neoplasms; Nervous System Neoplasms; Neoplasms by Site; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Matthew R Steensma, MD

  Corewell Health West

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr. Matthew Steensma

Study Record Dates

• First Submitted: January 21, 2015
• First Posted: May 19, 2016
• Study Start: May 1, 2016
• Primary Completion: June 1, 2025
• Study Completion: June 1, 2025
• Last Updated: July 24, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)