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

NCT03058185 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 800

Last updated 2025-03-13

No results posted yet for this study

Summary

Laminopathies and emerinopathies are complex group of rare disorders due to mutations in A-type lamins (LMNA) and Emerin (EMD) genes. Among them, disorders affecting skeletal and/or cardiac muscles are the most frequent clinical manifestations, with cardiac disease being a major cause of death. Remarkable progress has been made in the description of the clinical and genetic spectrum of these diseases since the 1990's. Until now, precise phenotype/genotype relations remain elusive. As for several other neuromuscular disorders, apart from symptomatic treatments, there is currently no specific treatment to prevent or slow down the progression of the disease. The OPALE registry is a multicentre web-based registry dedicated to laminopathy and emerinopathy French patients. OPALE has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic LMNA and/or EMD gene mutation.

The OPALE objectives are to provide a tool allowing detailed capture of patient genetic, neurological, cardiological, endocrinological and respiratory assessments, in order to allow i) precise disease natural history, ii) evaluation of different disease complication frequency and iii) identification of prognosis factors.

Conditions

  • Laminopathies
  • Emerinopathies

Sponsors & Collaborators

  • Institute of Myology

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    collaborator OTHER

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • Pitié-Salpêtrière Hospital

    lead OTHER

Principal Investigators

  • Karim Wahbi, MD, PhD · Assistance Publique - Hôpitaux de Paris

  • Gisele Bonne, PhD · Institut National de la Santé Et de la Recherche Médicale, France

  • Rabah Ben Yaou, MD · Institut de myologie

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-07-11
Primary Completion
2033-07-11
Completion
2033-07-11

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03058185 on ClinicalTrials.gov