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

NCT ID NCT05394506

Recruiting now Knowledge-focused Sponsor: Institut National de la Santé Et de la Recherche Médicale, France Source: ClinicalTrials.gov ↗

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.

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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

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