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2000-Patient study aims to uncover hidden metabolic risks in rare genetic disorders

NCT ID NCT05945576

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 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obesity, diabetes, and heart disease. No treatment is being tested; the goal is to improve understanding and future 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 could help doctors better predict and manage metabolic complications like obesity and diabetes in people with imprinting disorders.
What could go wrong
This is an observational study, not a treatment trial. It will not test any new therapy, and results may take years to influence 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.

Participants

About 2,000 people

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

Started

Mar 2017

Expected to finish

Mar 2028

An estimate. End dates often move.

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

All patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.

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 (adults and children) affected with an ID regardless of the severity of the disease * A confirmed diagnosis of ID (based on molecular diagnosis) * A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult. Non-Inclusion Criteria: There are no non-inclusion criteria.

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Conditions

The condition(s) this trial relates to.

Angelman syndrome Beckwith-Wiedemann syndrome multiple congenital anomalies due to 14q32.2 paternally expressed gene defect paternal uniparental disomy of chromosome 14 Prader-Willi syndrome precocious puberty pseudohypoparathyroidism Silver-Russell syndrome Temple syndrome transient neonatal diabetes mellitus

As listed by the trial registrant

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

Angelman syndrome Beckwith-Wiedemann syndrome Familial precocious puberty Kagami-ogata syndrome Prader-Willi syndrome Pseudohypoparathyroidism Silver Russell syndrome Temple syndrome Transient neonatal diabetes mellitus

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    20 sites. 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 d'Angers

    NOT_YET_RECRUITING

    Angers, France

  • Hôpital Armand-Trousseau

    RECRUITING

    Paris, France

  • Hôpital Bicêtre

    RECRUITING

    Le Kremlin-Bicêtre, France

  • Hôpital Brabois

    NOT_YET_RECRUITING

    Nancy, France

  • Hôpital Bretonneau

    NOT_YET_RECRUITING

    Tours, France

  • Hôpital Civil

    NOT_YET_RECRUITING

    Strasbourg, France

  • Hôpital Femme Mère Enfant

    NOT_YET_RECRUITING

    Lyon, France

  • Hôpital Gabriel Montpied

    NOT_YET_RECRUITING

    Clermont-Ferrand, France

  • Hôpital Jean Minjoz

    NOT_YET_RECRUITING

    Besançon, France

  • Hôpital Jeanne de Flandre

    NOT_YET_RECRUITING

    Lille, France

  • Hôpital Necker Enfants Malades

    RECRUITING

    Paris, France

  • Hôpital Robert Debré

    NOT_YET_RECRUITING

    Paris, France

  • Hôpital Sud

    RECRUITING

    Rennes, France

  • Hôpital de la Pitié-Salpêtrière

    RECRUITING

    Paris, France

  • Hôpital de la Pitié-Salpêtrière

    RECRUITING

    Paris, France

  • Hôpital de la Timone

    RECRUITING

    Marseille, France

  • Hôpital de la mère et de l'enfant

    NOT_YET_RECRUITING

    Limoges, France

  • Hôpital des Enfants

    RECRUITING

    Toulouse, France

  • Hôpital des Enfants

    NOT_YET_RECRUITING

    Toulouse, France

  • Hôpital enfant-adolescent

    NOT_YET_RECRUITING

    Nantes, France

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