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New DNA tests could spot hidden chromosome flaws in infertility and developmental disorders

NCT ID NCT05290051

Diagnosis Sponsor: Institut National de la Santé Et de la Recherche Médicale, France Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 tested two new technologies—optical genome mapping and long-read DNA sequencing—against standard chromosome tests in 350 people with infertility, intellectual disability, birth defects, or miscarriage. The goal was to see if these newer methods can find more chromosome abnormalities than current approaches. Results could lead to a single, more powerful test for genetic diagnosis.

What this could mean

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

Active substance
Optical genome mapping and long-read DNA sequencing
What this could lead to
If successful, these new tests could replace current methods and find more chromosome abnormalities, leading to better diagnoses for infertility, developmental disorders, and recurrent miscarriages.
What could go wrong
This is an early comparison study, not a treatment trial. The new tests may not be more accurate or practical than existing ones, and results may not apply to all patients.

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

350 people

The number who actually took part.

Started

Sep 2022

Finished

Mar 2025

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.

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: patient requiring chromosome analysis either in case of infertility or in case of Intellectual deficiency/malformation \- Exclusion Criteria: no exclusion criteria but we defined Non-inclusion criteria * ID in a context of perinatal suffering (e.g. hypoxia during labor) * Children born to non-native French-speaking parents in case of speech/language retardation * Obstructive azoospermia * Children under 5kg or whenever blood sampling cannot meet the required volume. * Missing or wrong blood collection tube * Insufficient blood volume * Missing or incomplete consent to research (e.g. only one parental consent for a child)

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Conditions

The condition(s) this trial relates to.

Abortion, Spontaneous Congenital Abnormalities infertility disorder intellectual disability

As listed by the trial registrant

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

Infertility Intellectual disability Malformation Miscarriage

Contacts and locations

Locations

  • Cochin APHP

    Paris, 75014, France

More trials for these conditions

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