Team leader: Dr Karim Wahbi

Dr 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 Registers 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

• National observatory for nuclear envelope diseases including laminopathies in collaboration with Gisèle Bonne, PhD, Inserm research team
• Observatory for mitochondrial diseases  (PI: Prof Laforêt)
• Register on type 3 glycogenosis (PIs:Prof Laforêt and Prof Labrune)
• Cohort follow up in Becker muscular dystrophy
• Register on Pompe disease (PI: Prof Laforêt, promotor : laboratoire Genzyme)

Team members

Dr 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

• 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.
• Decostre V, Laforêt P, Nadaj-Pakleza A, De Antonio M, Leveugle S, Ollivier G, Canal A, Kachetel K, Petit F, Eymard B, Behin A, Wahbi K, Labrune P, Hogrel JY. Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III. Neuromuscul Disord. 2016 Sep;26(9):584-92. doi:10.1016/j.nmd.2016.06.460. Epub 2016 Jun 28. PubMed PMID: 27460348.
• Wahbi K, Bougouin W, Béhin A, Stojkovic T, Bécane HM, Jardel C, Berber N, Mochel F, Lombès A, Eymard B, Duboc D, Laforêt P. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. Eur Heart J. 2015 Nov 7;36(42):2886-93. doi: 10.1093/eurheartj/ehv307. Epub 2015 Jul 29. PubMed PMID: 26224072.