- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02777775
Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.
Study Overview
Status
Intervention / Treatment
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 the investigators 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. The investigators plan to do experiments that identify which factors are important to CNF progression, and then find matching drugs that can shrink the tumors.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Esther Peariso, MSN, RN
- Phone Number: 6164860358
- Email: esther.peariso@corewellhealth.org
Study Contact Backup
- Name: Matthew Steensma, MD
- Phone Number: 6164865961
- Email: matthew.steensma@corewellhealth.org
Study Locations
-
-
Michigan
-
Grand Rapids, Michigan, United States, 49503
- Recruiting
- Spectrum Health Hospital Group
-
Principal Investigator:
- Matthew Steensma, MD
-
Contact:
- Nathan Shurlow
- Phone Number: 616-391-2724
- Email: nathan.shurlow@corewellhealth.org
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Any subject with an established diagnosis NF1 and CNFs. The diagnosis may be based on clinical criteria or genetic testing.
- Age >18 years.
Exclusion Criteria:
- Adults with diminished decision-making capacity with no defined legal guardian.
- Prisoners.
- Pregnant women.
3) Breastfeeding mothers.
Study Plan
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
Time Frame: 2 Years
|
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 Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
UV Exposure and NF1 History Questionaires
Time Frame: 2 Years
|
Measuring the relationship between sun exposure and CNF growth and development.
|
2 Years
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Matthew R Steensma, MD, Spectrum Health Hospitals
Study record dates
Study Major Dates
Study Start
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Nervous System Diseases
- Neoplasms by Histologic Type
- Neoplasms
- Genetic Diseases, Inborn
- Neuromuscular Diseases
- Neurodegenerative Diseases
- Neoplasms, Nerve Tissue
- Peripheral Nervous System Diseases
- Nervous System Neoplasms
- Heredodegenerative Disorders, Nervous System
- Neoplastic Syndromes, Hereditary
- Nerve Sheath Neoplasms
- Neurocutaneous Syndromes
- Peripheral Nervous System Neoplasms
- Neurofibromatoses
- Neurofibromatosis 1
- Neurofibroma
- Neurofibroma, Plexiform
Other Study ID Numbers
- 2014-295
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Neurofibromatosis Type 1
-
University of UtahUniversity of British Columbia; Children's Hospital Medical Center, Cincinnati and other collaboratorsTerminatedNeurofibromatosis Type 1 (NF1)United States, Canada
-
University of Alabama at BirminghamCompletedNeurofibromatosis Type 1 and Growing or Symptomatic, Inoperable PNUnited States
-
Novartis PharmaceuticalsTerminatedPlexiform Neurofibroma Associated With Neurofibromatosis Type 1Israel
-
SpringWorks Therapeutics, Inc.Active, not recruitingPlexiform Neurofibroma | Neurofibromatosis Type 1 (NF1)United States
-
AstraZenecaCompletedHealthy Participants | Neurofibromatosis Type 1 (NF1)-Related Plexiform Neurofibromas (PNs)United States
-
National Cancer Institute (NCI)CompletedPlexiform Neurofibroma | Neurofibromatosis Type IUnited States
-
SpringWorks Therapeutics, Inc.AvailableNeurofibromatosis Type 1-Associated Plexiform Neurofibromas | Histiocytic Neoplasm | Other MAP-K Pathway Driven Diseases
-
Johns Hopkins UniversityNeurofibromatosis Therapeutic Acceleration ProgramRecruitingNeurofibromatosis 1 | Neurofibromatosis Type 1 | Cutaneous Neurofibroma | Neurofibromatosis (Nonmalignant)United States
-
AstraZenecaRecruitingNeurofibromatosis Type 1Portugal, Spain, United Kingdom, Israel, France, Italy, Switzerland, Germany, Austria
-
National Cancer Institute (NCI)CompletedNeurofibromatosis Type 1 | Legius SyndromeUnited States
Clinical Trials on Skin Biopsy
-
Hordinsky, Maria K., MDTerminated
-
Sheffield Teaching Hospitals NHS Foundation TrustUniversity of Sheffield; Sheffield Children's NHS Foundation TrustRecruiting
-
Central Hospital, Nancy, FranceNot yet recruitingAlzheimer DiseaseFrance
-
Sohag UniversityNot yet recruiting
-
Fondazione Policlinico Universitario Agostino Gemelli...Recruiting
-
Central Hospital, Nancy, FranceNot yet recruitingHuntington Disease
-
Johns Hopkins UniversityNot yet recruitingSmall Fiber Neuropathy | Gastrointestinal DysmotilityUnited States
-
Hospices Civils de LyonRecruiting
-
ApteeusEnrolling by invitationMonogenic DisordersFrance
-
Mayo ClinicCompletedRespiratory Tract Diseases | Carcinoma, Non-Small-Cell Lung | Lung Diseases, Obstructive | Pulmonary Emphysema | Lung Cancer | Neoplasms, Lung | Thoracic Diseases | Carcinoma, Small Cell | COPD | Pulmonary Neoplasms | Neoplasms, Pulmonary | Pulmonary Cancer | Cancer of Lung | Cancer of the LungUnited States