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New DNA mapping technique may solve mystery birth defects

NCT ID NCT07370792

Diagnosis Sponsor: Céline PEBREL-RICHARD 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study tests a new genetic technique called optical genome mapping (OGM) to find hidden DNA changes in children with multiple birth defects and intellectual disability. Standard genetic tests have already failed to find a cause for these children. Researchers will collect a blood sample from 55 participants and use OGM to look for structural variants that other methods miss. If it works, OGM could become a routine diagnostic tool to give families answers.

What this could mean

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

Active substance
blood sample for optical genome mapping
What this could lead to
If successful, this could improve genetic diagnosis for children with multiple birth defects, helping families get answers and better medical management.
What could go wrong
This is a small, early-stage study with only 55 participants. The technique may not find new genetic causes, 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

About 55 people

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

Started

Nov 2025

Expected to finish

Nov 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.

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 * Patients presenting with at least two congenital anomalies, with or without intellectual disability, and weighing more than 5 kg. * Whole-genome sequencing performed by the AURAGEN laboratory deemed non-contributive (absence of class 4 or 5 variants, or identification of a VUS, or identification of only one variant in the context of a recessive disorder). * Patient covered by a social security scheme. * Patient able to understand and to oppose participation in the study. * Written informed consent for genetic analyses, signed either by the patient or by their legal representatives (for minors), after clear and fair information about the study has been provided. Non-Inclusion Criteria * Patients for whom a non-genetic cause (infectious, environmental, or toxic) has been previously identified. * Inability to obtain a compliant sample. * Patient or holder of parental authority under guardianship or legal protection, deprived of liberty, or placed under court-ordered protection.

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Conditions

The condition(s) this trial relates to.

Abnormalities, Multiple Congenital Abnormalities developmental defect during embryogenesis multiple congenital anomalies/dysmorphic syndrome-intellectual disability

As listed by the trial registrant

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

Congenital malformations

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

  • CHU clermont-Ferrand

    RECRUITING

    Clermont-Ferrand, France