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OpenTrials
Completed

NCT Number: NCT04941027

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

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.

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Key information

Conditions

Neurofibromatosis 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Neoplasms Neoplasms by Histologic Type Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Neurocutaneous Syndromes Neurodegenerative Diseases Neurofibroma Neurofibromatoses Neuromuscular Diseases Peripheral Nervous System Diseases

Age range

40 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Johns Hopkins University School of Medicine, Baltimore, California, United States

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Determination of genetic variants associated with clinical presentations of NF1.

    Time frame: Day 1

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

Sponsors and collaborators

Lead sponsor

Stanford University

Other

Collaborators

  • Johns Hopkins University
  • University of California, San Francisco

Registry information

Important dates

Study start
2021
Primary completion
2025
Study completion
2025
First posted
Jun 28, 2021
Registry last updated
Dec 2, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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