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

This study is currently recruiting participants.
See Contacts and Locations
Verified May 2016 by Matthew Steensma, Spectrum Health Hospitals
Sponsor:
Collaborator:
Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute
Information provided by (Responsible Party):
Matthew Steensma, Spectrum Health Hospitals
ClinicalTrials.gov Identifier:
NCT02777775
First received: January 21, 2015
Last updated: May 17, 2016
Last verified: May 2016
  Purpose
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 they 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, we hope to find better ways to understand and treat NF1 in the future.

Condition Intervention
Cutaneous Neurofibromas Neurofibromatosis Type 1 Plexiform Neurofibromas Procedure: Skin Biopsy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.

Resource links provided by NLM:


Further study details as provided by Matthew Steensma, Spectrum Health Hospitals:

Primary Outcome Measures:
  • Harvesting Up To 74 CNFs From Patients to obtain 8 tumors in three size categories: <5mm, 5-10mm, and >1cm. [ Time Frame: 2 Years ]
    Identify which factors are important to CNF progression, and then find matching drugs that can shrink the tumors and improve quality of life.


Secondary Outcome Measures:
  • UV Exposure and NF1 History Questionaires [ Time Frame: 2 Years ]
    Measuring the relationship between sun exposure and CNF growth and development.


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

Estimated Enrollment: 74
Study Start Date: May 2016
Estimated Study Completion Date: August 2018
Estimated Primary Completion Date: August 2018 (Final data collection date for primary outcome measure)
Intervention Details:
    Procedure: Skin Biopsy

    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.

Detailed Description:

Skin tumors in Neurofibromatosis Type 1 (NF1) are very common and diminish quality of life. Apart from surgery, very few treatment options exist. In comparison to other types of tumors in NF1, skin tumors receive less attention in the research world because they almost never turn into cancer. Under the microscope, skin tumors and plexiform tumors look similar, however they do not share the same growth potential, nor do they appear at the same time during development. These differences suggest that skin tumors are driven by different factors than plexiform tumors.

In this study we will be 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. These sizes were selected based on the variable natural history of CNF progression where incipient lesions (typically <5mm) are more numerous and demonstrate a less aggressive growth pattern, whereas the intermediate group (5-10mm) represent a transition state towards growth to larger (>1cm) lesions. Interestingly, CNF growth tends to stall out at 3cm. We plan to do experiments that identify which factors are important to CNF progression, and then find matching drugs that can shrink the tumors.

  Eligibility

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria

Inclusion Criteria:

  1. Any subject with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
  2. Age >18 years.
  3. Specific Vulnerable Populations:Pregnant women and Adults with diminished decision-making capacity with defined legal guardian.

Exclusion Criteria:

  1. Adults with diminished decision-making capacity with no defined legal guardian.
  2. Prisoners.
  3. Breastfeeding mothers.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02777775

Contacts
Contact: Heidi A De Vries, BS 616-486-2076 heidi.devries@spectrumhealth.org
Contact: Mathew R Steensma, MD 616-486-5961 matthew.steensma@spectrumhealth.org

Locations
United States, Michigan
Spectrum Health Hospital Group Recruiting
Grand Rapids, Michigan, United States, 49503
Contact: Heidi De Vries, BS    616-486-2076    heidi.devries@spectrumhealth.org   
Principal Investigator: Matthew Steensma, MD         
Sponsors and Collaborators
Spectrum Health Hospitals
Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute
Investigators
Principal Investigator: Matthew R Steensma, MD Spectrum Health Hospitals
  More Information

Responsible Party: Matthew Steensma, Dr. Matthew Steensma, Spectrum Health Hospitals
ClinicalTrials.gov Identifier: NCT02777775     History of Changes
Other Study ID Numbers: 2014-295
Study First Received: January 21, 2015
Last Updated: May 17, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Matthew Steensma, Spectrum Health Hospitals:
NF1
CNF
PNF
Skin Tumors

Additional relevant MeSH terms:
Neurofibromatoses
Neurofibroma
Neurofibromatosis 1
Nerve Sheath Neoplasms
Neurofibroma, Plexiform
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Neoplasms
Nervous System Neoplasms
Peripheral Nervous System Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on September 21, 2017