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

NCT04941027 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1046

Last updated 2025-12-02

No results posted yet for this study

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.

Conditions

  • Neurofibromatosis 1

Sponsors & Collaborators

Principal Investigators

  • Kavita Sarin, MD PhD · Stanford University

  • Jaishri Blakely, MD · Johns Hopkins University

  • Carlos Romo, MD · Johns Hopkins University

Eligibility

Min Age
40 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-05-07
Primary Completion
2025-09-30
Completion
2025-11-24

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04941027 on ClinicalTrials.gov