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

This study is currently recruiting participants.
Verified May 2016 by Matthew Steensma, Spectrum Health Hospitals
Sponsor:
ClinicalTrials.gov Identifier:
NCT02777775
First Posted: May 19, 2016
Last Update Posted: May 19, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute
Information provided by (Responsible Party):
Matthew Steensma, Spectrum Health Hospitals
January 21, 2015
May 19, 2016
May 19, 2016
May 2016
August 2018   (Final data collection date for primary outcome measure)
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.
Same as current
No Changes Posted
UV Exposure and NF1 History Questionaires [ Time Frame: 2 Years ]
Measuring the relationship between sun exposure and CNF growth and development.
Same as current
Not Provided
Not Provided
 
Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.
Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.
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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:
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
Non-Probability Sample
Anyone with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
  • Cutaneous Neurofibromas
  • Neurofibromatosis Type 1
  • Plexiform Neurofibromas
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.

Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
74
August 2018
August 2018   (Final data collection date for primary outcome measure)

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.
Sexes Eligible for Study: All
18 Years and older   (Adult, Senior)
Yes
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
United States
 
 
NCT02777775
2014-295
Yes
Not Provided
Plan to Share IPD: No
Matthew Steensma, Spectrum Health Hospitals
Spectrum Health Hospitals
Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute
Principal Investigator: Matthew R Steensma, MD Spectrum Health Hospitals
Spectrum Health Hospitals
May 2016