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Hunting the gene behind blood disorders

NCT ID NCT00722527

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 the genetic mutation that causes polycythemia (too many red blood cells) and thrombocytosis (too many platelets). Researchers will analyze blood samples from 200 participants to identify the faulty gene. Finding this gene could help design new treatments to control or even cure these conditions 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 identify the genetic mutation causing these blood disorders, paving the way for future targeted therapies.
What could go wrong
This is an observational study, not a treatment trial. Finding the genetic cause does not guarantee that effective treatments will be developed.

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 200 people

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

Start date

Jul 2006

Expected to finish

Jul 2028

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

Subjects who have polycythemia and thrombocytosis will be included in the study.

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: 1. Subjects with an elevated hemoglobin concentration (\>18 in males and \>16 in females) 2. Subjects with an elevated platelet count (\>450,000) Exclusion Criteria: 1. Subjects who have a known acquired cause of polycythemia and thrombocytosis 2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease

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Conditions

The condition(s) this trial relates to.

Hypoxia polycythemia Polycythemia, primary familial and congenital thrombocytosis disease

As listed by the trial registrant

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

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

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84132, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.