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Scientists hunt for genes behind NF1 skin tumors

NCT ID NCT04941027

Knowledge-focused Sponsor: Stanford University Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This completed study at Stanford University looked at the DNA of over 1,000 adults with Neurofibromatosis Type 1 (NF1) to find genetic differences that might explain why some people develop more skin neurofibromas than others. Participants provided blood or saliva samples for genetic analysis. The goal was to build a biobank to better understand the disease and eventually personalize care.

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 research could help doctors better predict and manage neurofibroma development in people with NF1, leading to more personalized care.
What could go wrong
This is an observational genetic study, not a treatment trial. It may not directly change patient care, and findings may not apply to all NF1 patients.

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

Study facts

What this study's own registry entry says, in plain language.

Participants

1,046 people

The number who actually took part.

Started

May 2021

Finished

Nov 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Participants aged 40 or older that have been clinically diagnosed with NF1 and currently have neurofibromas present.

Ages

40 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

neurofibromatosis type 1

As listed by the trial registrant

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

Neurofibromatosis 1

Contacts and locations

Locations

  • Johns Hopkins University School of Medicine

    Baltimore, California, 21218, United States

  • Stanford University

    Redwood City, California, 94063, United States

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