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

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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

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.
    



Study Type

Observational [Patient Registry]


Primary Outcome

Determination of genetic variants associated with clinical presentations of NF1.


Condition

Neurofibromatosis 1



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

1000

Start Date

May 7, 2021

Completion Date

June 1, 2022

Primary Completion Date

June 1, 2022

Eligibility 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.
      

Gender

All

Ages

40 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Kavita Sarin, MD PhD, 16504978029, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT04941027

Organization ID

53000

Secondary IDs

MZ-0053000

Responsible Party

Principal Investigator

Study Sponsor

Stanford University

Collaborators

 Johns Hopkins University

Study Sponsor

Kavita Sarin, MD PhD, Principal Investigator, Stanford University


Verification Date

June 2021