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

Sponsor
Stanford University (Other)
Overall Status
Recruiting
CT.gov ID
NCT04941027
Collaborator
Johns Hopkins University (Other), University of California, San Francisco (Other)
1,000
Enrollment
2
Locations
24.8
Anticipated Duration (Months)
500
Patients Per Site
20.2
Patients Per Site Per Month

Study Details

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    1000 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Cross-Sectional
    Official Title:
    Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
    Actual Study Start Date :
    May 7, 2021
    Anticipated Primary Completion Date :
    Jun 1, 2023
    Anticipated Study Completion Date :
    Jun 1, 2023

    Outcome Measures

    Primary Outcome Measures

    1. Determination of genetic variants associated with clinical presentations of NF1. [Day 1]

      GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    40 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Johns Hopkins University School of Medicine Baltimore California United States 21218
    2 Stanford University Redwood City California United States 94063

    Sponsors and Collaborators

    • Stanford University
    • Johns Hopkins University
    • University of California, San Francisco

    Investigators

    • Principal Investigator: Kavita Sarin, MD PhD, Stanford University
    • Principal Investigator: Jaishri Blakely, MD, Johns Hopkins University
    • Principal Investigator: Carlos Romo, MD, Johns Hopkins University

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Kavita Sarin, Assistant Professor of Medicine, Stanford University
    ClinicalTrials.gov Identifier:
    NCT04941027
    Other Study ID Numbers:
    • 53000
    • MZ-0053000
    • SPO: 200898
    First Posted:
    Jun 28, 2021
    Last Update Posted:
    Aug 19, 2022
    Last Verified:
    Aug 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    Yes
    Plan to Share IPD:
    Yes
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Neurofibromatoses
    Neurofibromatosis 1
    Neurofibroma

    Study Results

    No Results Posted as of Aug 19, 2022