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Should doctors call your family? study tests best way to screen for genetic risks

NCT ID NCT05348564

Knowledge-focused Sponsor: University of Maryland, Baltimore 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study compares two methods of contacting family members for genetic testing after a person is found to have a gene linked to familial hypercholesterolemia or long QT syndrome. In one group, the study team directly contacts relatives; in the other, the person with the gene contacts their own family. The goal is to see which method leads to more family members getting tested and to understand the ethical and emotional impacts.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
Direct contact of family members by study team vs proband-initiated contact
What this could lead to
If successful, this could show that directly contacting at-risk relatives is more effective for genetic screening, potentially saving lives through early detection.
What could go wrong
This is an early-stage study with only 200 participants, so results may not apply to all populations. The approach may not be widely adopted due to privacy concerns.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 200 people

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

Started

May 2023

Expected to finish

Oct 2027

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.

Ages

18 years and older

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.

Proband Inclusion Criteria: * KCNQ1 Thr224Met or APOB R3527Q carrier * 18 years or older Proband Exclusion Criteria: * None Family Inclusion Criteria: * 1st degree relative of a KCNQ1 Thr224Met or APOB Arg3527Gln carrier Family Exclusion Criteria: * None

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Conditions

The condition(s) this trial relates to.

familial hypercholesterolemia Hyperlipoproteinemia Type II long QT syndrome

As listed by the trial registrant

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

ETHICS Familial hypercholesterolemia Genetic testing Long QT syndrome

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 Maryland Amish Research Clinic

    RECRUITING

    Lancaster, Pennsylvania, 17602, United States

More trials for these conditions

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