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800-Patient registry maps the hidden path of rare muscle and heart gene disorders

NCT ID NCT03058185

NEW Knowledge-focused Sponsor: Pitié-Salpêtrière Hospital 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 21, 2026 · Last updated Sep 21, 2026

Summary

Laminopathies and emerinopathies are rare disorders caused by mutations in the LMNA or EMD genes, often affecting skeletal muscles and the heart. Researchers at French hospitals are building a registry of 800 patients with confirmed mutations to record detailed genetic, neurological, heart, hormone, and lung assessments over time. The goal is to understand how these diseases progress, how often complications occur, and which factors predict a worse outcome. No experimental treatment is given; participants receive standard care while their health data is collected.

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
Detailed tracking of these rare genetic disorders could help doctors predict who faces the highest risk and guide future treatment trials.
What could go wrong
This registry only observes patients and tests no treatment, so it cannot directly improve outcomes. Findings may take years to emerge and may not apply outside France.

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 800 people

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

Started

Jul 2013

Expected to finish

Jul 2033

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.

Who is studied

Patients with a proven pathogenic LMNA and/or EMD gene mutation

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: * Presence of a proven pathogenic LMNA and/or EMD gene mutation * Regular followup in France. * Signed informed consent Exclusion Criteria: -Refusal to sign an informed consent.

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Conditions

The condition(s) this trial relates to.

Autosomal Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss muscular dystrophy laminopathy X-linked Emery-Dreifuss muscular dystrophy

As listed by the trial registrant

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

Emerinopathies Laminopathies

How to take part

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

  1. The places running it

    29 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 Bordeaux

    RECRUITING

    Bordeaux, Gironde, 33000, France

  • CHU Brest

    RECRUITING

    Brest, Finistère, 29609, France

  • CHU Caen

    RECRUITING

    Caen, Calvados, 14000, France

  • CHU Clermont-Ferrand

    RECRUITING

    Clermont-Ferrand, Puy-de-Dôme, 63000, France

  • CHU Grenoble

    RECRUITING

    Grenoble, France

  • CHU Marseille

    RECRUITING

    Marseille, Bouches-du-Rhône, 13000, France

  • CHU Montpelleir

    RECRUITING

    Montpellier, Hérault, 34295, France

  • CHU Nancy

    RECRUITING

    Nancy, Meurthe-et-Moselle, 54000, France

  • CHU Nimes

    RECRUITING

    Nîmes, Gard, 30029, France

  • CHU Rennes

    RECRUITING

    Rennes, Ille-et-Vilaine, 35033, France

  • CHU Rouen

    RECRUITING

    Rouen, Seine-Maritime, 76000, France

  • CHU Strasbourg

    RECRUITING

    Strasbourg, Bas-Rhin, 67076, France

  • CHU Tours

    RECRUITING

    Tours, Indre-et-Loire, 37044, France

  • Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP

    RECRUITING

    Paris, Paris, 75015, France

  • Centre Expert de Pathologie Neuromusculaire - Département de Pathologie

    RECRUITING

    Créteil, Val-de-Marne, 94010, France

  • Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse

    RECRUITING

    Toulouse, Haute-Garonne, 31059, France

  • Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré

    RECRUITING

    Garches, Yvelines, France

  • Centre de référence des maladies neuromusculaires, CHRU Lille

    RECRUITING

    Lille, Lille, 59037, France

  • Centre de référence des maladies neuromusculaires, CHU Lyon

    RECRUITING

    Lyon, Lyon, 69002, France

  • Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau

    RECRUITING

    Paris, Paris, 75012, France

  • Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades

    RECRUITING

    Paris, Île-de-France Region, 75000, France

  • Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière

    RECRUITING

    Paris, Paris, 75013, France

  • Centre de référence maladies neuromusculaires,CHU d'Angers

    RECRUITING

    Angers, Angers, 49933, France

  • I-Motion Pédiatrique, Hôpital Armand Trousseau

    RECRUITING

    Paris, Paris, 75012, France

  • Institut de cardiologie, GH Pitié-Salpêtrière

    RECRUITING

    Paris, Paris, 75013, France

  • Laboratoire d'Explorations Fonctionnelle, CHU Nantes

    RECRUITING

    Nantes, Loire-Atlantique, 44093, France

  • Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine

    RECRUITING

    Paris, Paris, 75012, France

  • Service de cardiologie, CHU Amiens

    RECRUITING

    Amiens, Somme, 80000, France

  • Service de cardiologie, Hôpital Cochin

    RECRUITING

    Paris, Paris, 75014, France

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