Observatory for patients with laminopathies and emerinopathies
Official title: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Run by Pitié-Salpêtrière Hospital · NCT03058185 · Data updated 2026-11-12
This study is creating an online registry to collect health information from people in France with rare genetic disorders called laminopathies and emerinopathies to better understand and manage these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 800 (estimated) |
| Sponsor | Pitié-Salpêtrière Hospital Academic / other |
| Locations | 29 sites (Angers, Angers and 28 other locations) |
| Status | Recruiting |
| Started | July 11, 2013 |
| Main results expected | July 11, 2033 |
| Study ends | July 11, 2033 |
| Registry record updated | September 21, 2026 |
| Trial ID | NCT03058185 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals with a proven pathogenic mutation in the LMNA or EMD genes who are receiving regular follow-up care in France.
✕Probably not a fit
Patients without a confirmed pathogenic mutation in the LMNA or EMD genes will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study focuses on patients with laminopathies and emerinopathies, which are rare genetic disorders caused by mutations in the LMNA and EMD genes. The study aims to create a multicenter web-based registry, OPALE, to collect detailed clinical and genetic data from affected individuals in France. By documenting the phenotype/genotype relationships, the registry seeks to enhance understanding of these conditions and improve patient management. Participation requires a confirmed pathogenic mutation and regular follow-up in France.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of laminopathies and emerinopathies, potentially guiding future therapeutic strategies.
How similar studies have gone: While there have been advancements in understanding laminopathies and emerinopathies, this registry approach is relatively novel and aims to fill gaps in existing knowledge.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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Centre de référence maladies neuromusculaires,CHU d'Angers
Angers, Angers, France Recruiting -
CHU Strasbourg
Strasbourg, Bas-Rhin, France Recruiting -
CHU Marseille
Marseille, Bouches-du-Rhône, France Recruiting -
CHU Caen
Caen, Calvados, France Recruiting -
CHU Brest
Brest, Finistère, France Recruiting -
CHU Nimes
Nîmes, Gard, France Recruiting
Show 23 more locations
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CHU Bordeaux
Bordeaux, Gironde, France Recruiting -
Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse
Toulouse, Haute-Garonne, France Recruiting -
CHU Montpelleir
Montpellier, Hérault, France Recruiting -
CHU Rennes
Rennes, Ille-et-Vilaine, France Recruiting -
CHU Tours
Tours, Indre-et-Loire, France Recruiting -
Centre de référence des maladies neuromusculaires, CHRU Lille
Lille, Lille, France Recruiting -
Laboratoire d'Explorations Fonctionnelle, CHU Nantes
Nantes, Loire-Atlantique, France Recruiting -
Centre de référence des maladies neuromusculaires, CHU Lyon
Lyon, Lyon, France Recruiting -
CHU Nancy
Nancy, Meurthe-et-Moselle, France Recruiting -
Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau
Paris, Paris, France Recruiting -
I-Motion Pédiatrique, Hôpital Armand Trousseau
Paris, Paris, France Recruiting -
Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine
Paris, Paris, France Recruiting -
Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière
Paris, Paris, France Recruiting -
Institut de cardiologie, GH Pitié-Salpêtrière
Paris, Paris, France Recruiting -
Service de cardiologie, Hôpital Cochin
Paris, Paris, France Recruiting -
Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP
Paris, Paris, France Recruiting -
CHU Clermont-Ferrand
Clermont-Ferrand, Puy-de-Dôme, France Recruiting -
CHU Rouen
Rouen, Seine-Maritime, France Recruiting -
Service de cardiologie, CHU Amiens
Amiens, Somme, France Recruiting -
Centre Expert de Pathologie Neuromusculaire - Département de Pathologie
Créteil, Val-de-Marne, France Recruiting -
Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré
Garches, Yvelines, France Recruiting -
CHU Grenoble
Grenoble, France Recruiting -
Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades
Paris, Île-de-France Region, France Recruiting
Study contacts
- Principal investigator: Karim Wahbi, MD, PhD — Assistance Publique - Hôpitaux de Paris
- Study coordinator: Cathy Chikhaoui
- Email: k.chikhaoui@institut-myologie.org
- Phone: +33142165873
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Identifying patients with cardiomyopathy for potential heart transplantation
This study is trying to find new ways to identify and understand cardiomyopathy in patients to better predict if they might need a heart transplant in the future.
-
Exploring factors in muscle diseases caused by LMNA gene mutations
This study is trying to understand how changes in the LMNA gene affect muscle and heart problems in patients, to help improve their treatment.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.