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ClinicalTrials.gov ID

NCT03058185

Lead Sponsor

Pitié-Salpêtrière HospitalOTHER

Overall Status

Recruiting

Study Type

Observational

Enrollment

800Estimated

Last Update Posted

Mar 13, 2025Actual

Start Date

Jul 11, 2013Actual

Primary Completion Date

Jul 11, 2033Estimated

Completion Date

Jul 11, 2033Estimated

Official Title

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

Brief 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.

• Laminopathies
• Emerinopathies

Ages Eligible for Study

Child (0-17)Adult (18-64)Older Adult (65+)

Sexes Eligible for Study

All

Accepts Healthy Volunteers

No

Eligibility 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.

Observational Model

Case-Only

Time Perspective

Prospective

Lead Sponsor

Pitié-Salpêtrière HospitalOTHER

Collaborators

Institute of MyologyOTHER

Assistance Publique - Hôpitaux de ParisOTHER

Institut National de la Santé Et de la Recherche Médicale, FranceOTHER_GOV

KDieterich@chu-grenoble.fr