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Researchers map the features of a rare genetic syndrome

NCT ID NCT03718910

Knowledge-focused Sponsor: Icahn School of Medicine at Mount Sinai 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looked at 15 people with a rare genetic condition called DDX3X syndrome, which can cause intellectual disability and sometimes autism. Researchers used interviews, play-based assessments, and genetic tests to better understand the condition. The goal was to describe the range of symptoms and behaviors, not to test a treatment.

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

15 people

The number who actually took part.

Started

May 2018

Finished

Jun 2020

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

Individuals for this cohort study will be selected from any population, provided that they have a variant in the DDX3X gene and meet eligibility requirements.

Ages

2 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.

Inclusion Criteria: * Eligible participants must have a documented variant affecting the DDX3X gene that the research team determines to be likely or definitely pathogenic. * Eligible participants must be at least 2 years of age. Exclusion Criteria: * None

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Conditions

The condition(s) this trial relates to.

autism spectrum disorder developmental disability intellectual disability intellectual disability, X-linked 102 learning disability

As listed by the trial registrant

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

Autism spectrum disorder DDX3X Mental retardation, X-linked 102

Contacts and locations

Locations

  • The Seaver Autism Center for Research and Treatment

    New York, New York, 10029, United States

More trials for these conditions

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