Team leader: Prof. Karim Wahbi

prof. Karim Wahbi is a cardiologist at the Institute of Myology and in the Department of Cardiology at Cochin Hospital. In 2018, he received 2 prizes during the 26th European Days of the French Society of Cardiology: best young researcher and best poster on the subject of heart failure/cardiomyopathy.

The activities of the Registries and Databases team are dedicated to the development and maintenance of databases, registers, observational studies and cohort follow-ups developed at the Ile de France regional level and the French national level. The objective of these academic or industrial promotion projects is to collect epidemiological data, natural histories, to assess the effect of treatments and to prepare future therapeutic trials.

Ongoing projects

Registers

• National register OPALE (Observatory for patients with Laminopathies and Emerinopathies), Principal investigator Pr Karim Wahbi, operational coordinators Dr G. Bonne, Dr R. Ben Yaou and Prof K. Wahbi. 
• French Pompe disease register, Principal investigator Prof P. Laforet. 
• International Pompe Disease Register, Coordinator for France Prof P. Laforet. 
• « Becker-Cœur » register in the observational study « Cardiac involvement in Becker’s myopathy: evaluation of prognostic markers », Principal investigator Prof K. Wahbi. 
• « Mitochondriopathies » register in the observational study « Prospective follow-up of a cohort of adult patients with mitochondrial diseases », Principal investigator Prof P. Laforet. 
• « GSDIII » register in the observational study « Prospective follow-up of patients with type III glycogenosis », Principal co-investigators Prof P. Laforet and Prof P. Labrune. 

Database

• Specific locus database UMD-LMNA and UMD-FHL1 coordinated by Dr G. Bonne and Dr R. Ben Yaou.
• Specific locus database UMD-EMD ccoordinated by Dr Fr Leturcq and Dr R. Ben Yaou.
• Specific locus database UMD-DMD coordinated by Dr Fr Leturcq, Dr S. Tuffery-Giraud and Dr R. Ben Yaou.

Further details on the registries, databases and clinical trials currently running at the Institute.

Team members

Prof. Karim Wahbi, cardiologist
Dr Rabah Ben Yaou, neurologist
Khadija Chikhaoui, clinical research associate (CRA)
Nawal Berber, clinical research associate (CRA)
Nadgib Taouagh, clinical research associate (CRA)
Néjette Lallouche, clinical research associate (CRA)

Key publications

• Russo V, Wahbi K. Appropriate timing of electrophysiological study in myotonic dystrophy type 1: unsolved question. Europace. 2021 Dec 21:euab311. doi: 10.1093/europace/euab311. Online ahead of print. PMID: 34931223
• Gossios TD, Providencia R, Creta A, Segal OR, Nikolenko N, Turner C, Lopes LR, Wahbi K, Savvatis K. An overview of heart rhythm disorders and management in myotonic dystrophy type 1. Heart Rhythm. 2021 Nov 26:S1547-5271(21)02418-8. doi: 10.1016/j.hrthm.2021.11.028. Online ahead of print. PMID: 34843968 Review.
• Lioncino M, Monda E, Caiazza M, Fusco A, Cirillo A, Dongiglio F, Simonelli V, Sampaolo S, Ruggiero L, Scarano G, Pota V, Frisso G, Mazzaccara C, D’Amati G, Nigro G, Russo MG, Wahbi K, Limongelli G. Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options. Heart Fail Clin. 2022 Jan;18(1):51-60. doi: 10.1016/j.hfc.2021.07.003. Epub 2021 Oct 26. PMID: 34776083 Review.
• Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, Attarian S. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases. Orphanet J Rare Dis. 2021 Oct 26;16(1):450. doi: 10.1186/s13023-021-02090-y. PMID: 34702344 Free PMC article.
• Fayssoil A, Nguyen LS, Stojkovic T, Prigent H, Carlier R, Amthor H, Bergounioux J, Zini J, Damez-Fontaine S, Wahbi K, Laforet P, Nicolas G, Behin A, Bassez G, Leturcq F, Ben Yaou R, Mansencal N, Annane D, Lofaso F, Orlikowski D. Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy. Muscle Nerve. 2022 Jan;65(1):89-95. doi: 10.1002/mus.27432. Epub 2021 Oct 25. PMID: 34618930
• Fayssoil A, Lazarus A, Wahbi K, Clair B, Mansencal N, Orlikowski D. Leadless intracardiac transcatheter pacing system: 20 months follow up in adult Duchenne muscular dystrophy. Neuromuscul Disord. 2021 Sep;31(9):896-898. doi: 10.1016/j.nmd.2021.06.008. Epub 2021 Jun 19. PMID: 34391632
• Restrepo-Cordoba MA, Wahbi K, Florian AR, Jiménez-Jáimez J, Politano L, Arad M, Climent-Paya V, Garcia-Alvarez A, Hansen RB, Larrañaga-Moreira JM, Kubanek M, Lopes LR, Ros A, Jurcut R, Rasmussen TB, Ruiz-Guerrero L, Pribe-Wolferts R, Palomino-Doza J, Bilinska Z, Rodríguez-Palomares JF, Van Loon RLE, Basurte Elorz MT, Quarta G, Robledo Iñarritu M, Verdonschot JAJ, Stojkovic T, Shomanova Z, Bermudez-Jimenez F, Palladino A, Freimark D, García-Álvarez MI, Jorda P, Dominguez F, Ochoa JP, Girolami F, Brugada R, Meder B, Barriales-Villa R, Mogensen J, Laforêt P, Yilmaz A, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1). Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy. Eur J Heart Fail. 2021 Aug;23(8):1276-1286. doi: 10.1002/ejhf.2250. Epub 2021 Jun 9. PMID: 34050592
• Stalens C, Motté L, Béhin A, Ben Yaou R, Leturcq F, Bassez G, Laforêt P, Fontaine B, Ederhy S, Masingue M, Saadi M, Louis SL, Berber N, Stojkovic T, Duboc D, Wahbi K. Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy. J Neuromuscul Dis. 2021;8(4):495-502. doi: 10.3233/JND-200620. PMID: 33814458 Free PMC article.
• Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, Isapof A, Tiffreau V, Campana-Salort E, Leturcq F, Tuffery-Giraud S, Ben Yaou R, Annane D, Amédro P, Barnerias C, Bécane HM, Béhin A, Bonnet D, Bassez G, Cossée M, de La Villéon G, Delcourte C, Fayssoil A, Fontaine B, Godart F, Guillaumont S, Jaillette E, Laforêt P, Leonard-Louis S, Lofaso F, Mayer M, Morales RJ, Meune C, Orlikowski D, Ovaert C, Prigent H, Saadi M, Sochala M, Tard C, Vaksmann G, Walther-Louvier U, Eymard B, Stojkovic T, Ravaud P, Duboc D, Wahbi K. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data. Eur Heart J. 2021 May 21;42(20):1976-1984. doi: 10.1093/eurheartj/ehab054. PMID: 33748842.
• Atalaia A, Ben Yaou R, Wahbi K, De Sandre-Giovannoli A, Vigouroux C, Bonne G. Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’. J Neuromuscul Dis. 2021;8(3):419-439. doi: 10.3233/JND-200596. PMID: 33682723 Free PMC article.
• Berling É, Laforêt P, Wahbi K, Labrune P, Petit F, Ronzitti G, O’Brien A. Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects. J Inherit Metab Dis. 2021 May;44(3):521-533. doi: 10.1002/jimd.12355. Epub 2021 Jan 3. PMID: 33368379 Review.
• de Feraudy Y, Ben Yaou R, Wahbi K, Stalens C, Stantzou A, Laugel V, Desguerre I; FILNEMUS Network, Servais L, Leturcq F, Amthor H. Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy. Ann Neurol. 2021 Feb;89(2):280-292. doi: 10.1002/ana.25951. Epub 2020 Nov 24. PMID: 33159473 Free PMC article.
• Guimarães-Costa R, Fernández-Eulate G, Wahbi K, Leturcq F, Malfatti E, Behin A, Leonard-Louis S, Desguerre I, Barnerias C, Nougues MC, Isapof A, Estournet-Mathiaud B, Quijano-Roy S, Fayssoil A, Orlikowski D, Fauroux B, Richard I, Semplicini C, Romero NB, Querin G, Eymard B, Laforêt P, Stojkovic T. Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies. Eur J Neurol. 2021 Feb;28(2):660-669. doi: 10.1111/ene.14592. Epub 2020 Nov 21. PMID: 33051934.
• Tosserams A, Papadopoulos C, Jardel C, Lemière I, Romero NB, De Lonlay P, Wahbi K, Voermans N, Hogrel JY, Laforêt P. Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations. Mitochondrion. 2017 Aug 18. pii:S1567-7249(16)30193-3. doi: 10.1016/j.mito.2017.08.009. [Epub ahead of print]PubMed PMID: 28823815.
• Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K. Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. Cardiol Young. 2017 Aug;27(6):1076-1082. doi:10.1017/S1047951116002079. Epub 2016 Dec 12. PubMed PMID: 27938454.
• Fayssoil A, Laforêt P, Bougouin W, Jardel C, Lombès A, Bécane HM, Berber N,Stojkovic T, Béhin A, Eymard B, Duboc D, Wahbi K. Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. Eur J Neurol. 2017 Feb;24(2):255-261. doi: 10.1111/ene.13176. Epub 2016 Nov 21. PubMed PMID: 27869334.
• Le Guiner C, Servais L, Montus M, Larcher T, Fraysse B, Moullec S, Allais M, François V, Dutilleul M, Malerba A, Koo T, Thibaut JL, Matot B, Devaux M, Le Duff J, Deschamps JY, Barthelemy I, Blot S, Testault I, Wahbi K, Ederhy S, Martin S, Veron P, Georger C, Athanasopoulos T, Masurier C, Mingozzi F, Carlier P, Gjata B, Hogrel JY, Adjali O, Mavilio F, Voit T, Moullier P, Dickson G. Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nat Commun. 2017 Jul 25;8:16105. doi: 10.1038/ncomms16105.
• Preisler N, Laforêt P, Madsen KL, Husu E, Vissing CR, Hedermann G, Galbo H, Lindberg C, Vissing J. Skeletal muscle metabolism during prolonged exercise in Pompe disease. Endocr Connect. 2017 Aug;6(6):384-394. doi: 10.1530/EC-17-0042. Epub 2017 May 10. PubMed PMID: 28490439.
• Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, Praline J, Solé G, Hogrel JY, De Antonio M, Semplicini C, Deibener-Kaminsky J, Kaminsky P, Eymard B, Taouagh N, Perniconi B, Hamroun D, Laforêt P; French Pompe Study Group. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. Mol Genet Metab. 2017 Jun 20. pii: S1096-7192(17)30336-0. doi: 10.1016/j.ymgme.2017.06.007. [Epub ahead of print] PubMed PMID: 28648663.
• Byrne BJ, Geberhiwot T, Barshop BA, Barohn R, Hughes D, Bratkovic D, Desnuelle C, Laforet P, Mengel E, Roberts M, Haroldsen P, Reilley K, Jayaram K, Yang K, Walsh L; POM-001/002 Investigators. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. Orphanet J Rare Dis. 2017 Aug 24;12(1):144. doi: 10.1186/s13023-017-0693-2. PubMed PMID: 28838325; PubMed Central PMCID: PMC5571484.
• van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017 Jun;24(6):768-e31. doi:10.1111/ene.13285. Epub 2017 May 6. PubMed PMID: 28477382.