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Gene hunt for rare cholesterol problems

NCT ID NCT02311335

Knowledge-focused Sponsor: National Heart, Lung, and Blood Institute (NHLBI) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Aug 28, 2026 · Updated 14 times

Summary

This study aimed to find new gene changes that cause rare lipid disorders. Researchers used advanced genetic testing to look at many genes at once in 140 people and their relatives. The goal was to discover causes that older methods missed.

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

140 people

The number who actually took part.

Started

Nov 2014

Finished

Sep 2021

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

Entire population.

Ages

2 to 99 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: Index cases to be included are those with unusual dyslipidemia. Relatives of affected individuals may also be included as appropriate. Child Index: greater than or equal to 2 years older Adult Index: greater than or equal to18 years older Child relatives (siblings, cousins): greater than or equal to 2 years older Adult Relative: greater than or equal to18 years older (Biological parent, aunt, uncle or grandparent) EXCLUSION CRITERIA: 1. Inability or unwillingness to provide informed consent or assent 2. Prisoners or other institutionalized persons will not be allowed to participate. 3. Children \<2 years of age.

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Conditions

The condition(s) this trial relates to.

atherosclerosis Cholesteryl Ester Transfer Protein Deficiency Dyslipidemias hyperlipidemia hypertriglyceridemia inherited lipid metabolism disorder Lipid Metabolism Disorders

As listed by the trial registrant

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

Lipid disorders

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

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