CompletedNot Applicable

Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1

United States1,046 participantsStarted 2021-05-07

Plain-language 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.

Who can participate

Age range40 Years

SexALL

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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.

What they're measuring

Determination of genetic variants associated with clinical presentations of NF1.

Timeframe: Day 1

Trial details

NCT IDNCT04941027

SponsorStanford University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-09-30

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