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Gene study aims to unlock cancer risks in families

NCT ID NCT04792463

Knowledge-focused Sponsor: Mohamed Abdel-Rahman 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is looking for 500 people with certain cancers (like eye or skin melanoma, kidney cancer, or mesothelioma) and their family members to understand how common BAP1 gene mutations are. Researchers will collect medical history and questionnaires to learn about cancer risks and environmental factors. The goal is to improve screening and prevention for families with this genetic syndrome.

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 lead to better screening and earlier detection of cancers in people with BAP1 mutations, potentially improving outcomes.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and results 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 500 people

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

Started

Mar 2015

Expected to finish

Jul 2026

An estimate. End dates often move.

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

Providers at OSU will identify eligible participants through clinical practice. Providers at other institutions who become aware of our research through presentations at conferences, publications, etc. may identify one of their patients as eligible or potentially eligible for the study and introduce the study to their patient.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: Patients who meet any of the following criteria: 1. Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, meningioma and hepatocellular carcinoma. 2. Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome. 3. Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant. 4. Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance. 5. At risk relatives of a patient with documented BAP1 mutation. Exclusion Criteria: * Study material including consent forms are currently only available in English so non-English speaking subjects are excluding

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Conditions

The condition(s) this trial relates to.

BAP1-related tumor predisposition syndrome cholangiocarcinoma cutaneous melanoma grade II meningioma hepatocellular carcinoma melanoma meningioma mesothelioma renal cell carcinoma uveal melanoma

As listed by the trial registrant

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

BAP1 gene mutation Cholangiocarcinoma Cutaneous melanoma Hepatocellular carcinoma Meningioma atypical Mesothelioma Renal cell carcinoma Uveal melanoma

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

  • The Ohio State University Wexner Medical Center

    RECRUITING

    Columbus, Ohio, 43210, United States

More trials for these conditions

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