Gene hunt aims to unlock NF1's mysteries

NCT ID NCT00111384

First seen Jun 27, 2026 · Last updated Aug 07, 2026 · Updated 6 times

Summary

This study looks at people with neurofibromatosis type 1 (NF1) and their families to find out why some have more severe symptoms than others. Researchers will collect medical history, blood samples, and images to study genes and physical traits. The goal is to identify genes that influence disease severity and better understand rare features of NF1.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If successful, this could help identify genes that predict the severity of NF1, leading to better monitoring and personalized care.
What could go wrong
This is an observational study, not a treatment trial. It may not directly improve health outcomes, and results may take years to apply in practice.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.