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Rare gene study aims to unlock kidney cancer risks

NCT ID NCT00033137

Knowledge-focused Sponsor: National Cancer Institute (NCI) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Sep 17, 2026 · Updated 7 times

Summary

This study looks at a rare inherited condition called Birt-Hogg-Dube (BHD) syndrome, which raises the risk of kidney cancer. Researchers will collect blood, saliva, and tissue samples from up to 950 participants to find the genes involved and understand how kidney tumors grow. The goal is to better predict cancer risk and guide monitoring for affected families.

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 study could lead to better ways to predict kidney cancer risk in people with BHD syndrome and improve monitoring guidelines.
What could go wrong
This is an observational study, not a treatment trial. It may not directly change patient care, and findings may take years to translate into clinical practice.

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

About 950 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2002

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

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

Who is studied

Individuals with histologically confirmed fibrofolliculomas, individuals with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer, a biological relative of an individual with a confirmed diagnosis of BHD. Individuals with a known germline FLCN mutation

Ages

2 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: Individuals that meet one or more of the following criteria: -Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as: --Individuals with at least one histologically confirmed fibrofolliculomas; or --Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer; or --Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer; or --Individuals with a known germline FLCN gene mutation OR -Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma. OR * Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD. -Participants must be \>= 2 years of age. * For children less than 18 years of age, parental permission or legal guardian consent will be obtained. EXCLUSION CRITERIA: None.

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Conditions

The condition(s) this trial relates to.

Birt-Hogg-Dube syndrome kidney cancer kidney neoplasm neoplasm pneumothorax renal carcinoma

As listed by the trial registrant

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

FLCN protein, human Kidney cancer Kidney neoplasms Pneumothorax

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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