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Scientists hunt for hidden leukemia genes in families

NCT ID NCT03058588

Knowledge-focused Sponsor: Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026

Summary

This study looks for inherited gene mutations that may raise the risk of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Researchers will use advanced genetic testing to compare DNA from affected and unaffected family members. The goal is to find new or known mutations linked to these blood cancers, which could improve understanding of how they run in 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 could help identify genetic markers that predict leukemia risk in families, potentially guiding earlier monitoring or prevention strategies.
What could go wrong
This is a small, early-stage observational study with only 20 participants. It aims to discover mutations, not test a treatment, so direct benefits for patients are uncertain.

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 20 people

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

Started

Feb 2017

Expected to finish

Dec 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

Detailed personal and family history from every patient affected by myeloid malignancy will be obtained, in order to identify patients with at least one relative affected by myeloid malignancy or lymphoproliferative disorders or with the features that increase the likelihood of one of the aforementioned familial myeloid malignancy predisposition syndromes

Ages

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

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: Any patient with acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) with: 1. a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies 2. a first- or second-degree relative with Lymphoproliferative neoplasms 3. or with clinical features that resemble one of the familial MDS/AML predisposition syndromes: * History of thrombocytopenia and/or a clinical bleeding propensity (as in RUNX1, ANKRD26 or ETV6 germline mutations) * Abnormal nails or skin pigmentation, oral leukoplakia, idiopathic pulmonary fibrosis, unexplained liver disease (as in TERT and TERC germline mutations) * Lymphedema, atypical infections, immune deficiencies (as in GATA2 germline mutations) Exclusion Criteria: 1. any diagnosis other than acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS); 2. acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) without a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies or without a first- or second-degree relative with Lymphoproliferative neoplasms or with clinical features that resemble one of the familial MDS/AML predisposition syndromes; 3. unability to sign the informed consent

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Conditions

The condition(s) this trial relates to.

acute myeloid leukemia leukemia myelodysplastic syndrome

As listed by the trial registrant

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

Leukemia

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

  • Chair of Hematology and Bone marrow Transplant Unit

    RECRUITING

    Brescia, 25123, Italy

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