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

Title: 
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for Patients With Laminopathies and Emerinopathies) (OPALE)
Recruitment Status: 
Recruiting
Status Last Updated: 
June 7, 2019
Clinical Phenotype(s): 
Emery Dreifuss MD, EDMD
LMNA Related Disorders
Gene(s): 
EMD
LMNA
Study Purpose: 

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.

Phase: 
Unknown
Study Description: 

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.

Study Type: 
Observational
Official Title: 
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Study Start Date: 
July 11, 2013
Study Completion Date: 
July 11, 2023
Primary Objective(s): 
  1. 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 ]
  2. 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
Secondary Objective(s): 

None

Eligibility: 

Ages Eligible for Study: Child, Adult, Older Adult

Sexes Eligible for Study: All

Sampling Method: Non-Probability Sample

Inclusion Criteria: 
  1. Presence of a proven pathogenic LMNA and/or EMD gene mutation
  2. Regular followup in France.
  3. Signed informed consent
Exclusion Criteria: 
  1. -Signed informed refusal
Study Site(s)/Location(s): 

France

Sponsors & Collaborators: 

Pitié-Salpêtrière Hospital

Principal Investigator(s): 

Florence Petit, MD

Vincent Tiffreau, MD         

Celine Tard, MD         

Marie-Christine Vantyghem, MD   

For more information, please contact the Study Coordinator: 

Contact:  

Email: 

Phone: 

ClinicalTrials.gov ID: 
NCT03058185