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Observatory for patients with laminopathies and emerinopathies

Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)

Observational Pitié-Salpêtrière Hospital · NCT03058185

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 typeObservational
Enrollment800 (estimated)
SexAll
SponsorPitié-Salpêtrière Hospital Academic / other
Locations28 sites (Angers, Angers and 27 other locations)
Trial IDNCT03058185 on ClinicalTrials.gov

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.

Who should consider this trial

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.

Not a fit: Patients without a confirmed pathogenic mutation in the LMNA or EMD genes will not benefit from this study.

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 performed: While there have been advancements in understanding laminopathies and emerinopathies, this registry approach is relatively novel and aims to fill gaps in existing knowledge.

Eligibility criteria

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 this trial is running

Angers, Angers and 27 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions LaminopathiesEmerinopathiesLamin A/CLMNAEmerinEMD
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.