Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
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The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.
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Ages Eligible for Study:
40 Years and older (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Participants aged 40 or older that have been clinically diagnosed with NF1 and currently have neurofibromas present.
Age 40 or older.
NF type 1 diagnosed using clinical criteria.
At least one neurofibroma present at time of enrollment.
Patient able to read and understand consent form (or equivalent translation) and able to give consent.
Patient able and willing to complete all study procedures.
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:
Individual participant data will be shared indefinitely with collaborators after data is deidentified.
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Data will be available as generated indefinitely.
Data will be shared through secure REDCap database.
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Studies a U.S. FDA-regulated Drug Product:
Studies a U.S. FDA-regulated Device Product:
Additional relevant MeSH terms:
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Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplastic Syndromes, Hereditary
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms