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

Study at a glance

From the registry record, last updated by the sponsor on 21 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title

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

ClinicalTrials.gov ID

NCT03058185

Acronym / sponsor ID

OPALE / CPP58-12, ID-RCB2012-A00791

Conditions

Laminopathies, Emerinopathies

Keywords

Lamin A/C, LMNA, Emerin, EMD

Study type

Observational

Recruitment status

Recruiting

Enrolment

800 participants (estimated)

Lead sponsor

Pitié-Salpêtrière HospitalUniversity, hospital or other

Collaborators

Institut de Myologie, France, Assistance Publique - Hôpitaux de Paris, Institut National de la Santé Et de la Recherche Médicale, France

Study start

11 Jul 2013 (actual)

Primary completion

11 Jul 2033 (estimated)

Study completion

11 Jul 2033 (estimated)

First posted

20 Feb 2017 (actual)

Results

Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Study design

Observational model

Case only

Time perspective

Prospective

Target follow-up

10 Years

Who may qualify

Sex

All

Healthy volunteers

Not accepted

Age groups

Child, Adult, Older adult

Study population

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

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Primary outcome

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

   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

Results and safety

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

Research links

• Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2026.
• Derived from this study: PubMed 41790128Charron 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.
• Derived from this study: PubMed 31155932Wahbi 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.
• Portail épidémiologie FranceLink provided by the sponsor.
• OrphanetLink provided by the sponsor.
• AFM-TelethonLink provided by the sponsor.
• Individual participant dataSharing planned: No

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.

29 sites in 1 country: see every site and its status.