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New blood test could replace risky prenatal procedures for genetic diseases

NCT ID NCT03087526

Diagnosis Sponsor: University Hospital, Montpellier Source: ClinicalTrials.gov ↗

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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 Results may not be published yet.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
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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This status has not been confirmed recently, so it may be out of date.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 aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and compared the new blood-based test results to the standard invasive tests (chorionic villus sampling or amniocentesis). The goal was to see if the new method could accurately and safely diagnose these genetic conditions without the risks of invasive procedures.

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

60 people

The number who actually took part.

Started

Jun 2017

Finished

Apr 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.

Ages

18 months and older

Sex

Female participants only

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: * older than 18 years old * pregnant woman between 9 and 34 weeks of gestation * Couple at risk (based on family history or echographic findings) for one of the following diseases: Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3 * Written informed consent was obtained for the study * Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected * Couple molecular diagnosis results for one of the following diseases (Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3 ) MUST BE AVAILABLE. Exclusion Criteria: * Couple Genomic DNA are unavailable * Subjects at risk of transmitting the family disease, but not wishing to know their molecular status * individuals under guardianship by court order

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Conditions

The condition(s) this trial relates to.

fragile X syndrome Huntington disease Machado-Joseph disease myotonic dystrophy myotonic dystrophy type 1 spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 Spinocerebellar Ataxias

As listed by the trial registrant

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

Non invasive prenatal diagnosis

Contacts and locations

Locations

  • CH Saint Brieuc

    Saint-Brieuc, 22027, France

  • CHU Bordeaux

    Bordeaux, 33076, France

  • CHU Montpellier

    Montpellier, 34295, France

  • CHU Nice

    Nice, 06202, France

  • CHU Nîmes

    Nîmes, 30029, France

  • CHU Rennes

    Rennes, 35203, France

  • CHU Strasbourg

    Schiltigheim, 67303, France

  • CHU Toulouse

    Toulouse, 31059, France

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