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NCT04941027 | RECRUITING | Neurofibromatosis 1

Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults with Neurofibromatosis Type 1
Sponsor:

Stanford University

Information provided by (Responsible Party):

Kavita Sari

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.

Condition or disease

Neurofibromatosis 1

Study Type : OBSERVATIONAL
Estimated Enrollment : 1000 participants
Official Title : Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults with Neurofibromatosis Type 1
Actual Study Start Date : 2021-05-07
Estimated Primary Completion Date : 2025-09-30
Estimated Study Completion Date : 2025-09-30

Information not available for Arms and Intervention/treatment

Ages Eligible for Study: 40 Years
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
Criteria
Inclusion Criteria
  • * 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.
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults with Neurofibromatosis Type 1

Location Details

NCT04941027

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How to Participate

Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

Locations

RECRUITING

United States, California

Johns Hopkins University School of Medicine

Baltimore, California, United States, 21218

RECRUITING

United States, California

Stanford University

Redwood City, California, United States, 94063