Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) (OPALE)
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| ClinicalTrials.gov Identifier: NCT03058185 |
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Recruitment Status :
Recruiting
First Posted : February 20, 2017
Last Update Posted : July 28, 2020
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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.
| Condition or disease |
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| Laminopathies Emerinopathies |
| Study Type : | Observational [Patient Registry] |
| Estimated Enrollment : | 800 participants |
| Observational Model: | Case-Only |
| Time Perspective: | Prospective |
| Target Follow-Up Duration: | 10 Years |
| Official Title: | Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) |
| Actual Study Start Date : | July 11, 2013 |
| Estimated Primary Completion Date : | July 11, 2023 |
| Estimated Study Completion Date : | July 11, 2023 |
- 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Sampling Method: | Non-Probability Sample |
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03058185
| Contact: Cathy CHIKHAOUI | +33142165873 | k.chikhaoui@institut-myologie.org |
| France | |
| CHU Marseille | Recruiting |
| Marseille, Bouches-du-Rhône, France, 13000 | |
| Contact: AnnaChiara DE SANDRE-GIOVANNOLI, Md, PhD +33 491 38 66 27 annachiara.desandre@ap-hm.fr | |
| Contact: Bénédicte GABORIT +33 491 96 87 23 benedicte.gaborit@ap-hm.fr | |
| CHU Bordeaux | Recruiting |
| Bordeaux, Gironde, France, 33000 | |
| Contact: Guilhem SOLE, MD +33 557 82 13 80 guilhem.sole@chu-bordeaux.fr | |
| Contact: Frédéric SACHER, MD +33 557 65 64 71 frederic.sacher@chu-bordeaux.fr | |
| Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades | Recruiting |
| Paris, Ile De France, France, 75000 | |
| Contact: Isabelle DESGUERRE, MD, PhD +33 144 49 58 36 isabelle.desguerre@aphp.fr | |
| Contact: Christine BARNERIAS, MD +33 144 49 58 36 christine.barnerias@aphp.fr | |
| CHU Caen | Recruiting |
| Caen, Normandie, France | |
| Contact: Fabien Labonbarda, MD, PhD labombarda-f@chu-caen.fr | |
| Contact: Françoise Chapon, MD, PhD chapon-f@chu-caen.fr | |
| Principal Investigator: Stéphane Schaeffer, MD | |
| Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré | Recruiting |
| Garches, Yvelines, France | |
| Contact: Susana QUIJANO-ROY, MD, PhD +33 147 10 78 90 susana.quijano-roy@aphp.fr | |
| Contact: Ivana DABAJ, MD +33 147 10 78 90 ivana.dabaj@aphp.fr | |
| Centre de référence maladies neuromusculaires,CHU d'Angers | Recruiting |
| Angers, France, 49933 | |
| Contact: Julien Durigneux, MD JuDurigneux@chu-angers.fr | |
| Contact: Marco Spinazzi, MD +33 241357933 Marco.Spinazzi@chu-angers.fr | |
| Centre de référence des maladies neuromusculaires, CHRU Lille | Recruiting |
| Lille, France, 59037 | |
| Contact: Jean Marie Cuisset, MD Jean-Marie.CUISSET@CHRU-LILLE.FR | |
| Principal Investigator: Florence Petit, MD | |
| Principal Investigator: Vincent Tiffreau, MD | |
| Principal Investigator: Celine Tard, MD | |
| Principal Investigator: Marie-Christine Vantyghem, MD | |
| Centre de référence des maladies neuromusculaires, CHU Lyon | Recruiting |
| Lyon, France, 69002 | |
| Contact: Françoise Bouhour, MD +33 4 72 11 80 63 francoise.bouhour@chu-lyon.fr | |
| Contact: Véronique Manel, MD +33 4 72 38 56 86 veronique.manel@chu-lyon.fr | |
| Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine | Recruiting |
| Paris, France, 75012 | |
| Contact: Corinne VIGOUROUX, MD, PhD +33 171 97 09 78 corinne.vigouroux@inserm.fr | |
| Contact: Camille VATIER, MD, PhD 33 140 01 13 21 camille.vatier@inserm.fr | |
| Centre de référence maladies neuromusculaires ile de France, GH Pitié-Salpêtrière | Recruiting |
| Paris, France, 75013 | |
| Contact: Cathy CHIKHAOUI +33142165873 k.chikhaoui@institut-myologie.org | |
| Service de cardiologie, Hôpital Cochin | Recruiting |
| Paris, France, 75014 | |
| Contact: Denis Duboc, MD, PhD denis.duboc@aphp.fr | |
| Contact: Karim Wahbi, MD, PhD karim.wahbi@aphp.fr | |
| Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau | Recruiting |
| Paris, France | |
| Contact: Arnaud ISAPOF, MD +33 171 73 85 51 arnaud.isapof@aphp.fr | |
| Contact: Michele MAYER, MD +33 171 73 82 79 michele.mayer@aphp.fr | |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
| Responsible Party: | Bruno Eymard, Clinical Professor-Head of the neuromuscular reference center, Pitié-Salpêtrière Hospital |
| ClinicalTrials.gov Identifier: | NCT03058185 |
| Other Study ID Numbers: |
CPP58-12, ID-RCB2012-A00791 |
| First Posted: | February 20, 2017 Key Record Dates |
| Last Update Posted: | July 28, 2020 |
| Last Verified: | July 2020 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Lamin A/C Emerin |