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LaminopathiesOPALENCT03058185

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

An observational study of Laminopathies and Emerinopathies, run by Pitié-Salpêtrière Hospital at 29 sites in France.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
Search all trials

Trial 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. Read more about this study

Who is it for?
Any age
Conditions the study is for
Laminopathies, Emerinopathies
How many people
800 participants
Where
29 sitesFrance
Study dates
11 Jul 2013to 11 Jul 2033
How long will I take part?
10 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

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

Who may be able to join

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

Who cannot join

  • -Refusal to sign an informed consent.

Trial locations and contacts

29 sites in 1 country. Contact the study team or a site near you to ask about taking part.

Cathy Chikhaoui contact

+33142165873

k.chikhaoui@institut-myologie.org

29 sites in 1 country

France29 sites, 29 recruiting

  • Service de cardiologie, CHU Amiens

    Amiens, Somme, 80000

    Elise Daire, MD, 0322087700, daire.elise@chu-amiens.fr

    Recruiting

  • Centre de référence maladies neuromusculaires,CHU d'Angers

    Angers, Angers, 49933

    Julien Durigneux, MD, JuDurigneux@chu-angers.fr

    Marco Spinazzi, MD, +33 241357933, Marco.Spinazzi@chu-angers.fr

    Recruiting

  • CHU Bordeaux

    Bordeaux, Gironde, 33000

    Guilhem SOLE, MD, +33 557 82 13 80, guilhem.sole@chu-bordeaux.fr

    Frédéric SACHER, MD, +33 557 65 64 71, frederic.sacher@chu-bordeaux.fr

    Recruiting

  • CHU Brest

    Brest, Finistère, 29609

    Jean-Baptiste Noury, MD, jean-baptiste.noury@chu-brest.fr

    Jean-Baptiste Noury, MD

    Recruiting

  • CHU Caen

    Caen, Calvados, 14000

    Fabien Labombarda, MD, PhD, labombarda-f@chu-caen.fr

    Fabien Labombarda, MD, PhD

    Recruiting

  • CHU Clermont-Ferrand

    Clermont-Ferrand, Puy-de-Dôme, 63000

    Frederic Taithe, MD, ftaithe@chu-clermontferrand.fr

    Romain Eschalier, MD, PhD, reschalier@chu-clermontferrand.fr

    Recruiting

  • Centre Expert de Pathologie Neuromusculaire - Département de Pathologie

    Créteil, Val-de-Marne, 94010

    Sarah Souvannanorath, MD, sarah.souvannanorath@aphp.fr

    Recruiting

  • Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré

    Garches, Yvelines

    Susana QUIJANO-ROY, MD, PhD, +33 147 10 78 90, susana.quijano-roy@aphp.fr

    Laforet, MD, PhD, pascal.laforet@aphp.fr

    Recruiting

  • CHU Grenoble

    Grenoble

    Klaus Dieterich, MD, KDieterich@chu-grenoble.fr

    Klaus Dieterich, MD

    Recruiting

  • Centre de référence des maladies neuromusculaires, CHRU Lille

    Lille, Lille, 59037

    Marie-Christine Vantyghem, MD, Christine.VANTYGHEM@CHRU-LILLE.FR

    Marie-Christine Vantyghem, MD

    Recruiting

  • Centre de référence des maladies neuromusculaires, CHU Lyon

    Lyon, Lyon, 69002

    Françoise Bouhour, MD, +33 4 72 11 80 63, francoise.bouhour@chu-lyon.fr

    Véronique Manel, MD, +33 4 72 38 56 86, veronique.manel@chu-lyon.fr

    Recruiting

  • CHU Marseille

    Marseille, Bouches-du-Rhône, 13000

    Anna Chiara DE SANDRE-GIOVANNOLI, Md, PhD, +33 491 38 66 27, annachiara.desandre@ap-hm.fr

    Anna Chiara DE SANDRE-GIOVANNOLI, MD, PhD

    Recruiting

  • CHU Montpelleir

    Montpellier, Hérault, 34295

    Ulrike Walther-Louvier, MD, u-louvier@chu-montpellier.fr

    Ulrike Walther-Louvier, MD

    Recruiting

  • CHU Nancy

    Nancy, Meurthe-et-Moselle, 54000

    Maud Michaud, m.michaud@chru-nancy.fr

    Maud Michaud, MD

    Recruiting

  • Laboratoire d'Explorations Fonctionnelle, CHU Nantes

    Nantes, Loire-Atlantique, 44093

    Yann Pereon, MD, 02 40 08 36 17, Yann.Pereon@univ-nantes.fr

    Armelle Magot, MD, Armelle.Magot@univ-nantes.fr

    Recruiting

  • CHU Nimes

    Nîmes, Gard, 30029

    Pierre François Winum, MD, PhD, pierre.WINUM@chu-nimes.fr

    Pierre François Winum, MD, PhD

    Recruiting

  • Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau

    Paris, Paris, 75012

    Arnaud Isapof, MD, +33 171 73 85 51, arnaud.isapof@aphp.fr

    Arnaud Isapof, MD

    Recruiting

  • I-Motion Pédiatrique, Hôpital Armand Trousseau

    Paris, Paris, 75012

    Andreea Seferian, MD, a.sefrian@institut-myologie.org

    Andreea Seferian, MD

    Recruiting

  • Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine

    Paris, Paris, 75012

    Corinne Vigouroux, MD, PhD, corinne.vigouroux@inserm.fr

    Camille Vatier, MD, PhD, camille.vatier@inserm.fr

    Recruiting

  • Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière

    Paris, Paris, 75013

    Cathy CHIKHAOUI, +33142165873, k.chikhaoui@institut-myologie.org

    Hassina Bouguerra, hassina.bouguerra@aphp.fr

    Recruiting

  • Institut de cardiologie, GH Pitié-Salpêtrière

    Paris, Paris, 75013

    Philippe Charron, MD, PhD, philippe.charron@aphp.fr

    Philippe Charron, MD, PhD

    Recruiting

  • Service de cardiologie, Hôpital Cochin

    Paris, Paris, 75014

    Karim Wahbi, MD, PhD, karim.wahbi@aphp.fr

    Recruiting

  • Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP

    Paris, Paris, 75015

    Albert Hagege, MD, PhD

    Albert Hagege, MD, PhD

    Recruiting

  • Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades

    Paris, Île-de-France Region, 75000

    Isabelle DESGUERRE, MD, PhD, +33 144 49 58 36, isabelle.desguerre@aphp.fr

    Christine BARNERIAS, MD, +33 144 49 58 36, christine.barnerias@aphp.fr

    Recruiting

  • CHU Rennes

    Rennes, Ille-et-Vilaine, 35033

    Marie Christine Minot-Mihye, MD, minot.mc@wanadoo.fr

    Marie Christine Minot-Mihye, MD

    Recruiting

  • CHU Rouen

    Rouen, Seine-Maritime, 76000

    Frederic Anselme, MD, PhD, Frederic.Anselme@chu-rouen.fr

    Frederic Anselme

    Recruiting

  • CHU Strasbourg

    Strasbourg, Bas-Rhin, 67076

    Aleksandra Nadaj-Pakleza, MD, aleksandra.nadaj-pakleza@chru-strasbourg.fr

    Aleksandra Nadaj-Pakleza, MD

    Recruiting

  • Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse

    Toulouse, Haute-Garonne, 31059

    Pascal Cintas, MD, 05 61 77 94 40, cintas.p@chu-toulouse.fr

    Eric Bieth, MD, maury.p@chu-toulouse.fr

    Recruiting

  • CHU Tours

    Tours, Indre-et-Loire, 37044

    Dominique Babuty, MD, PhD, D.BABUTY@chu-tours.fr

    Dominique Babuty, MD, PhD

    Recruiting

Other trials in France

About this study

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.

Keywords
Lamin A/C, LMNA, Emerin, EMD
Medical subject headings
Laminopathies, X-Linked Emery-Dreifuss Muscular Dystrophy, Autosomal Emery-Dreifuss Muscular Dystrophy, Muscular Dystrophy, Emery-Dreifuss

What is being measured

The primary outcome is the main question the study is designed to answer.

  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

    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

    Measured: yearly up to 10 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted20 Feb 2017
  2. Study start11 Jul 2013
  3. Primary completion11 Jul 2033 (estimated)
  4. Study completion11 Jul 2033 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Case only
Time perspective
Prospective
Enrolment
800 participants (estimated)
Target duration
10 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT03058185
Sponsor's protocol ID
CPP58-12, ID-RCB2012-A00791
Acronym
OPALE
Status last verified
Sep 2026
First submitted
15 Feb 2017
Last updated
21 Sep 2026
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Charron P, Proukhnitzky J, Ben Yaou R, Richard P, Dembele M, Urtis M, Gossios T, Kumar S, Savvatis K, Stojkovic T, Anselme F, Maury P, Gandjbakhch E, Martins R, Sacher F, Trochu JN, Rouanet S, Lejeune J, Moubarak G, Fayssoil A, Marijon E, Laforet P, Behin A, Leonard-Louis S, Sole G, Labombarda F, Metay C, Quijano-Roy S, Dabaj I, Klug D, Habib G, Vantyghem MC, Chevalier P, Salort-Campana E, Sellal JM, Waintraub X, Zeppenfeld K, Amin AS, Kramarenko DR, Pinto YM, Landstrom A, Serio A, Chikhaoui C, Combes N, Barnerias C, Becane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Brehin AC, Cintas P, Roubille F, Lamblin N, de Groote P, Winum PF, Piriou N, Reant P, De Sandre-Giovannoli A, Masingue M, Desguerre I, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Fradin M, Gaborit B, Gay A, Hagege A, Isapof A, Jeru I, Lagrue E, Laugel V, Lazarus A, Leturcq F, Magot A, Manel V, Mercier S, Meune C, Michaud M, Minot-Myhie MC, Nadaj-Pakleza A, Pereon Y, Petit F, Praline J, Rollin A, Sarret C, Taithe F, Tard C, Tiffreau V, Fauchier L, Vatier C, Walther-Louvier U, Schurr B, Bobin P, El Hachmi M, Billon C, Fontaine B, Vigouroux C, Lakdawala NK, Arbustini E, Elliott P, Bonne G, Wahbi K. Laminopathies: natural history and risk prediction of heart failure. Eur Heart J. 2026 Jun 23;47(24):3135-3148. doi: 10.1093/eurheartj/ehag104.

    PubMed 41790128

  • 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, Laforet P, Fayssoil A, Marijon E, Stojkovic T, Behin 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, Becane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boule 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, Hagege 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-Myhie MC, Muchir A, Nadaj-Pakleza A, Pereon 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.

    PubMed 31155932

Questions about this trial

What is this clinical trial studying?

An observational study of Laminopathies and Emerinopathies, run by Pitié-Salpêtrière Hospital at 29 sites in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 21 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 29 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Cathy Chikhaoui (+33142165873, k.chikhaoui@institut-myologie.org), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

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). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03058185, which also lists 2 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Sep 2026.

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