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

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ClinicalTrials.gov Identifier: NCT03058185
Recruitment Status : Recruiting
First Posted : February 20, 2017
Last Update Posted : June 7, 2019
Sponsor:
Information provided by (Responsible Party):
Bruno Eymard, Pitié-Salpêtrière Hospital

Tracking Information
First Submitted Date February 15, 2017
First Posted Date February 20, 2017
Last Update Posted Date June 7, 2019
Actual Study Start Date July 11, 2013
Estimated Primary Completion Date July 11, 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 15, 2017)
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
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03058185 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
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.

Detailed Description Not Provided
Study Type Observational [Patient Registry]
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration 10 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with a proven pathogenic LMNA and/or EMD gene mutation
Condition
  • Laminopathies
  • Emerinopathies
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 15, 2017)
800
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 11, 2023
Estimated Primary Completion Date July 11, 2023   (Final data collection date for primary outcome measure)
Eligibility Criteria

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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Not Provided
Contacts
Contact: Cathy CHIKHAOUI +33142165873 k.chikhaoui@institut-myologie.org
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03058185
Other Study ID Numbers CPP58-12, ID-RCB2012-A00791
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Bruno Eymard, Pitié-Salpêtrière Hospital
Study Sponsor Pitié-Salpêtrière Hospital
Collaborators Not Provided
Investigators Not Provided
PRS Account Pitié-Salpêtrière Hospital
Verification Date June 2019