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Rare genetic syndromes under the microscope: what 800 participants could reveal

NCT ID NCT02447861

Knowledge-focused Sponsor: Rutgers, The State University of New Jersey Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 aims to learn more about the medical and behavioral effects of two rare genetic conditions: 3q29 deletion and 3q29 duplication syndromes. Researchers will collect health and behavior data from 800 participants, including those with the syndromes and healthy siblings. The goal is to better understand the range of challenges these individuals face, which could improve future care and support.

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 study could provide a clearer picture of the medical and behavioral challenges linked to 3q29 syndromes, helping guide future care and support.
What could go wrong
This is an observational study, not a treatment trial, so it won't directly improve health. Results depend on participant reports and may not apply to everyone with these syndromes.

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 800 people

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

Started

Jul 2013

Expected to finish

Jan 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

Study subjects will be recruited by an internet-based registry. The registry website will be indexed on popular search enginesand potential study subjects can elect to visit the website as they choose. Study population will be individuals with the 3q29 deletion or 3q29 duplication and their family members, although in most cases the primary caregiver of the 3q29 deletion or duplication individual will contribute the data. This study aims to collect data on approximately 200 individuals with the 3q29 deletion and 100 individuals with the 3q29 duplication. For comparison purposes, the study will assess an equal number of matched number of unaffected siblings and control individuals without the 3q29 deletion or duplication.

Ages

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

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: * Diagnosis of 3q29 deletion or 3q29 duplication * Consent from parents or guardians or an adult with 3q29 deletion or 3q29 duplication that does not require a legal guardian or an adult who is the healthy sibling of an individual with 3q29 deletion or 3q29 duplication or a healthy age-matched control Exclusion Criteria: * Clinically significant medical disease that would prohibit participation in the study procedures

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Conditions

The condition(s) this trial relates to.

chromosome 3q29 microdeletion syndrome chromosome 3q29 microduplication syndrome

As listed by the trial registrant

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

Microdeletion 3q29 syndrome Microduplication 3q29 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

  • Internet-Based

    RECRUITING

    Piscataway, New Jersey, 08854, United States