Spots Global Cancer Trial Database for Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
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Trial Identification
Brief Title: Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
Official Title: Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
Study ID: NCT04941027
Conditions
Interventions
Study Description
Brief Summary: 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.
Detailed Description:
Keywords
Eligibility
Minimum Age: 40 Years
Eligible Ages: ADULT, OLDER_ADULT
Sex: ALL
Healthy Volunteers: No
Locations
Johns Hopkins University School of Medicine, Baltimore, California, United States
Stanford University, Redwood City, California, United States
Contact Details
Name: Kavita Sarin, MD PhD
Affiliation: Stanford University
Role: PRINCIPAL_INVESTIGATOR
Name: Jaishri Blakely, MD
Affiliation: Johns Hopkins University
Role: PRINCIPAL_INVESTIGATOR
Name: Carlos Romo, MD
Affiliation: Johns Hopkins University
Role: PRINCIPAL_INVESTIGATOR
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