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Massive gene hunt aims to solve mystery of intellectual disability

NCT ID NCT01867554

Knowledge-focused Sponsor: Institut National de la Santé Et de la Recherche Médicale, France 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026

Summary

This study looked at 8500 people with intellectual disability to find new genes that might cause it. Researchers used advanced DNA tools to compare patients and their healthy siblings. The goal was to identify unknown genetic causes and improve future diagnosis.

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 could identify new genes causing intellectual disability, leading to better genetic testing and diagnosis for affected families.
What could go wrong
This is an observational study, not a treatment trial. It may not find new genes or directly benefit participants, and results may take years to apply.

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

8,500 people

The number who actually took part.

Started

Dec 2012

Finished

Dec 2022

Lead sponsor

A government agency

The lead sponsor is a government body.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

* 2500 patients with intellectuel disability * 5000 parents or unaffected sibs * 1000 affected sibs

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: * for the patients: Clinical diagnosis of intellectual disbility * for the unaffected sibs: to be aged at least 3 years * informed consent Exclusion Criteria: * absence of informed consent

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Conditions

The condition(s) this trial relates to.

Autism Spectrum Disorder intellectual disability

As listed by the trial registrant

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

Intellectual disability

Contacts and locations

Locations

  • CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière,

    Paris, 750013, France

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