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Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others

NCT ID NCT05394506

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravating genes. No treatment is being tested; the goal is to better understand why symptoms vary so widely among patients.

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 identify genes that make laminopathy milder or worse, pointing toward future targets for therapies.
What could go wrong
This is a small, early observational study (40 participants) that does not test any treatment. It may not find clear genetic modifiers, 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 40 people

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

Started

Sep 2022

Expected to finish

Dec 2027

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.

Ages

2 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: * Patient with an LMNA mutation that has led to the diagnosis of laminopathy affecting striated muscle * Presenting the symptoms of the disease, whether they are index cases or related to this index case (muscle weakness, tendon retractions with or without respiratory or cardiac involvement) * Have no contraindication to muscle or skin biopsy, i.e., 1) presence of a history of allergy to latex, antiseptics, local anesthetics and adhesive dressings, 2) Current oral or parenteral anticoagulant therapy (anti-vitamin K, heparins, anti-platelet agents, anti-factor X, anti-thrombin), 3) History of inherited (haemophilias, platelet diseases) or acquired (vitamin K deficiency, liver failure) coagulation disorders. * Patients (adult participant) or both holders of parental authority (minor participant) must sign a free and informed consent. If a minor has only 1 legal representative, the latter must attest to this on the consent form. * Patients affiliated to the general French social security system, to the French Universal Medical Coverage (CMU) or to any French equivalent scheme. Exclusion Criteria: * Pregnant or breastfeeding women * Adult subject to legal protection measures (safeguard of justice, curatorship and guardianship).

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Conditions

The condition(s) this trial relates to.

Autosomal Emery-Dreifuss Muscular Dystrophy congenital muscular dystrophy due to LMNA mutation dilated cardiomyopathy dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant laminopathy muscular dystrophy

As listed by the trial registrant

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

Dilated cardiomyopathy-1A Emery Dreifuss muscular dystrophy 2 Laminopathies Lmna-related congenital muscular dystrophy

How to take part

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

  1. The places running it

    8 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

  • Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon

    RECRUITING

    Bron, Auvergne-Rhône-Alpes, 69677, France

  • Centre de référence maladies neuromusculaires, Institut de myologie, Hôpital Pitié-Salpêtrière

    RECRUITING

    Paris, France, 75013, France

  • Centre de référence pour les maladies cardiaques héréditaires

    RECRUITING

    Paris, Paris, 75013, France

  • Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes

    NOT_YET_RECRUITING

    Nantes, Loire-Atlantique, 44093, France

  • Service de Génétique médicale, CHU Rennes

    NOT_YET_RECRUITING

    Rennes, Ille-et-Vilaine, 35000, France

  • Service de Neurologie, Réanimation Pédiatriques, Hôpital Raymond Poincaré, Hôpitaux Universitaires, Paris-Ile-de-France-Ouest

    NOT_YET_RECRUITING

    Garches, Île-de-France Region, 92380, France

  • Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier

    NOT_YET_RECRUITING

    Montpellier, Hérault, 34295, France

  • Service de cardiologie & Service de Neurophysiologie - CHU de Rouen

    RECRUITING

    Rouen, Normandy, 76031, France