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Massive gene hunt aims to unlock secrets of blood disorders

NCT ID NCT02720679

Knowledge-focused Sponsor: St. Jude Children's Research Hospital 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026 · Updated 1 time

Summary

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understand why some people get sicker than others. The goal is to build a resource that can lead to better diagnosis and treatment in the future.

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 uncover new genetic causes of blood diseases and point toward better ways to diagnose or treat them in the future.
What could go wrong
This is a sample-collection study, not a treatment trial. It may take years to produce meaningful results, and findings may not lead directly to new therapies.

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 1,716 people

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

Started

Jun 2016

Expected to finish

Jul 2050

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

Participants will be (1) individuals with a non-malignant hematologic disorder confirmed or suspected to have a genetic basis, and (2) affected and unaffected family members of those individuals who are willing to provide clinical data and undergo genetic testing.

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: * An individual (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder, MDS or MPN. * A biologically-related individual to the identified proband to include: first, second or third degree relatives. Exclusion Criteria: * None

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Conditions

The condition(s) this trial relates to.

blood coagulation disease Bone Marrow Failure Disorders bone marrow failure syndrome Diamond-Blackfan anemia dyskeratosis congenita erythrocyte disorder Fanconi anemia inherited thrombocytopenia Kostmann syndrome leukocyte disorder myelodysplastic syndrome Myelodysplastic Syndromes myeloproliferative neoplasm severe congenital neutropenia sickle cell disease

As listed by the trial registrant

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

Blood coagulation disorder Bone marrow failure syndromes Congenital thrombocytopenia Diamond Blackfan anemia Dyskeratosis congenita Erythrocyte disorder Fanconi anemia Hemostasis Leukocyte disorder Myelodysplastic syndromes Myeloproliferative diseases Severe congenital neutropenia Sickle cell disease

How to take part

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

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

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

  3. 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 ↗

  4. 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

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • St. Jude Children's Research Hospital

    RECRUITING

    Memphis, Tennessee, 38105, United States

    Contact Email: •••••@•••••

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