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

December 13, 2023 updated by: Bruno Eymard, Pitié-Salpêtrière Hospital

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

800

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Angers, France, 49933
      • Lille, France, 59037
        • Recruiting
        • Centre de référence des maladies neuromusculaires, CHRU Lille
        • Contact:
        • Principal Investigator:
          • Florence Petit, MD
        • Principal Investigator:
          • Marie-Christine Vantyghem, MD
        • Principal Investigator:
          • Celine Tard, MD
        • Principal Investigator:
          • Vincent Tiffreau, MD
      • Lyon, France, 69002
      • Paris, France, 75012
        • Recruiting
        • Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine
        • Contact:
        • Contact:
      • Paris, France, 75013
        • Recruiting
        • Centre de référence maladies neuromusculaires ile de France, GH Pitié-Salpêtrière
        • Contact:
      • Paris, France, 75014
        • Recruiting
        • Service de cardiologie, Hôpital Cochin
        • Contact:
      • Paris, France
        • Recruiting
        • Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau
        • Contact:
        • Contact:
    • Bouches-du-Rhône
      • Marseille, Bouches-du-Rhône, France, 13000
    • Gironde
    • Ile De France
      • Paris, Ile De France, France, 75000
        • Recruiting
        • Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades
        • Contact:
        • Contact:
    • Normandie
      • Caen, Normandie, France
    • Yvelines
      • Garches, Yvelines, France
        • Recruiting
        • Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Patients with a proven pathogenic LMNA and/or EMD gene mutation

Description

Inclusion Criteria:

  • Presence of a proven pathogenic LMNA and/or EMD gene mutation
  • Regular followup in France.
  • Signed informed consent

Exclusion Criteria:

-Signed informed refusal

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Comprehensive clinical evaluation of individuals with geneticaly proven mutations in LMNA or EMD genes according to the study protocol, in order to evaluate disease progression
Time Frame: yearly up to 10 years
Comprehensive clinical evaluation of individuals with geneticaly proven mutations in LMNA or EMD genes according to the study protocol, in order to evaluate disease progression
yearly up to 10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Pitié-Salpêtrière Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 11, 2013

Primary Completion (Estimated)

July 11, 2033

Study Completion (Estimated)

July 11, 2033

Study Registration Dates

First Submitted

February 15, 2017

First Submitted That Met QC Criteria

February 15, 2017

First Posted (Actual)

February 20, 2017

Study Record Updates

Last Update Posted (Estimated)

December 20, 2023

Last Update Submitted That Met QC Criteria

December 13, 2023

Last Verified

December 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CPP58-12, ID-RCB2012-A00791

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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