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, 2023
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
May 2022