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Scientists track families with rare gene mutation to uncover cancer clues

NCT ID NCT03830229

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Aug 27, 2026 · Updated 14 times

Summary

This study follows people with inherited BAP1 gene mutations, which raise the risk of mesothelioma and other cancers. Researchers will track participants over many years, collecting medical history, blood samples, and scans to understand how these mutations lead to cancer. The goal is to learn more about cancer development, not to test a new treatment.

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 reveal how BAP1 mutations lead to mesothelioma and other cancers, pointing toward better screening or prevention strategies.
What could go wrong
This is an observational study, not a treatment trial. It may not directly lead to new therapies, and results depend on long-term participation and data collection.

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 1,000 people

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

Started

Mar 2019

Expected to finish

Dec 2034

An estimate. End dates often move.

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

Persons with mesothelioma and family members as well as individuals with CLIA documented germline BAP-1.

Ages

2 to 120 years

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 for Genetic Testing: Cohort 1: * Participant with pathology confirming a diagnosis of mesothelioma. * Participant must have a deleterious germline BAP1 mutation. Results from either research or clinical analyses are sufficient for this criterion. OR * Participant with mesothelioma otherwise eligible for genetic testing in Cohort 2 * Age \>= 2 years Cohort 2: -Individual with a germline BAP1 mutation who does not have a history of mesothelioma (other cancers are allowed). Results from either research or clinical analyses are sufficient for this criterion. OR -Individual with no history of mesothelioma with: --A biological first degree relative (living or deceased) with a history of mesothelioma OR --A first degree biological relative with a CLIA (or equivalent) confirmed germline mutation in BAP1 OR --A second degree biological relative with a CLIA (or equivalent) confirmed germline mutation in BAP1 if relevant first degree relative is deceased or unavailable for testing, OR --A second degree biological relative with mesothelioma and a CLIA (or equivalent) confirmed germline mutation in BAP1 -Age \>= 2 years All participants must understand and be willing to sign a written informed consent Exclusion Criteria for Genetic Testing None Inclusion Criteria for Surveillance: Inclusion Criteria for Surveillance * Genetic testing criteria including age restrictions for respective cohorts must be met. * Participants in Cohort 1 may be enrolled with positive results for germline BAP1 mutation regardless of CLIA (or equivalent) confirmation * Participants in Cohort 2: * must have CLIA (or equivalent) confirmed germline BAP1 mutation Exclusion Criteria for Surveillance None

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Conditions

The condition(s) this trial relates to.

BAP1-related tumor predisposition syndrome mesothelioma

As listed by the trial registrant

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

Families Mesothelioma

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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