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

NCT ID: NCT04941027

Last Updated: 2025-12-02

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

1046 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-05-07

Study Completion Date

2025-11-24

Brief Summary

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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.

Detailed Description

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Conditions

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Neurofibromatosis 1

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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.
Minimum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Johns Hopkins University

OTHER

Sponsor Role collaborator

University of California, San Francisco

OTHER

Sponsor Role collaborator

Stanford University

OTHER

Sponsor Role lead

Responsible Party

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Kavita Sarin

Assistant Professor of Medicine

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Kavita Sarin, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Stanford University

Jaishri Blakely, MD

Role: PRINCIPAL_INVESTIGATOR

Johns Hopkins University

Carlos Romo, MD

Role: PRINCIPAL_INVESTIGATOR

Johns Hopkins University

Locations

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Johns Hopkins University School of Medicine

Baltimore, California, United States

Site Status

Stanford University

Redwood City, California, United States

Site Status

Countries

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United States

Other Identifiers

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MZ-0053000

Identifier Type: OTHER

Identifier Source: secondary_id

SPO: 200898

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

53000

Identifier Type: -

Identifier Source: org_study_id

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