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Can genes predict liver risk in kids with rare disorder?

NCT ID NCT01862211

Knowledge-focused Sponsor: Hospices Civils de Lyon 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 looks at genetic differences in children with alpha-1 antitrypsin deficiency, a rare inherited condition that can cause liver disease. Researchers will compare gene patterns between children who develop liver problems and those who do not, using blood samples from about 400 participants. The goal is to find genetic markers that could help predict which children are at highest risk, allowing for earlier and more tailored care.

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 study could help identify which children with alpha-1 antitrypsin deficiency are at higher risk for severe liver disease, enabling earlier monitoring and personalized care.
What could go wrong
This is an observational genetic study, not a treatment trial. It may not find clear genetic markers, and any findings would need further validation before changing clinical practice.

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

296 people

The number who actually took part.

Start date

May 2013

Finished

Nov 2017

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

7 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: * Children included in the DefiAlpha cohort or adult aged under 18 years at the time of inclusion in the cohort Defi-Alpha, with a deficiency of of alpha-1 antitrypsin * Beneficiaries subjects of a social security system * Presence of a signed informed consent (patient or parents) at the time of inclusion Exclusion Criteria: \- Lack of consent

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Conditions

The condition(s) this trial relates to.

alpha 1-antitrypsin deficiency Digestive System Diseases

As listed by the trial registrant

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

Children with A deficiency of alpha-1 antitrypsin

Contacts and locations

Locations

  • AP-HP - Kremlin Bicêtre

    Le Kremlin-Bicêtre, France

  • AP-HP Hôpital Necker

    Paris, France

  • CH Saint Nazaire

    Saint-Nazaire, France

  • CHG Le HAVRE

    Le Havre, France

  • CHU Estaing

    Clermont-Ferrand, France

  • CHU d'Amiens - Hopital Nord

    Amiens, France

  • CHU de BESANCON

    Besançon, France

  • Centre de Pédiatrie Gatien de Clocheville

    Tours, France

  • Hopital Hautepierre

    Strasbourg, France

  • Hopital de la Timone

    Marseille, France

  • Hôpital Anne de Bretagne

    Rennes, France

  • Hôpital Brabois Enfants

    Nancy, France

  • Hôpital Charles Nicolle

    Rouen, France

  • Hôpital Couple Enfant

    La Tronche, France

  • Hôpital Femme Mère Enfant de Lyon

    Bron, France

  • Hôpital Jeanne de Flandre

    Lille, France

  • Hôpital Mère Enfant

    Nantes, France

  • Hôpital Nord

    Saint-Etienne, France

  • Hôpital Pellegrin

    Bordeaux, France

  • Hôpital des Enfants

    Toulouse, France