Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)
Aims: We designed a two-part epidemiological study, an observatory for amyloid transthyretin amyloidosis (OBSAMYL). The first objective was to identify and count the number of patients diagnosed with ATTR amyloidosis in participating French centres. The second was to evaluate the use and safety prof...
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2024-01-01
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| author | Thibaud Damy Erwan Donal Olivier Lairez Jean-Christophe Eicher Mounira Karoubi Jean-Noël Trochu Jocelyn Inamo Gilbert Habib François Roubille Albert Hagège Flore Morio Eve Cariou Jérôme Adda Vincent Algalarrondo Agathe Coste Mathilde Bartoli Jérémie Rudant Lara Salvi Bruno Francou Anne Guiochon-Mantel David Adams Jean-Christophe Antoine Shahram Attarian Pascal Cintas Raul Juntas Morales Emmeline Lagrange Laurent Magy Martial Mallaret Yann Péréon Philippe Petiot Cécile Cauquil Céline Labeyrie Andoni Echaniz-Laguna Guilhem Sole Céline Tard Silvia Oghina Philippe Charron Michel Slama |
| author_facet | Thibaud Damy Erwan Donal Olivier Lairez Jean-Christophe Eicher Mounira Karoubi Jean-Noël Trochu Jocelyn Inamo Gilbert Habib François Roubille Albert Hagège Flore Morio Eve Cariou Jérôme Adda Vincent Algalarrondo Agathe Coste Mathilde Bartoli Jérémie Rudant Lara Salvi Bruno Francou Anne Guiochon-Mantel David Adams Jean-Christophe Antoine Shahram Attarian Pascal Cintas Raul Juntas Morales Emmeline Lagrange Laurent Magy Martial Mallaret Yann Péréon Philippe Petiot Cécile Cauquil Céline Labeyrie Andoni Echaniz-Laguna Guilhem Sole Céline Tard Silvia Oghina Philippe Charron Michel Slama |
| author_sort | Thibaud Damy |
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| description | Aims: We designed a two-part epidemiological study, an observatory for amyloid transthyretin amyloidosis (OBSAMYL). The first objective was to identify and count the number of patients diagnosed with ATTR amyloidosis in participating French centres. The second was to evaluate the use and safety profile of tafamidis meglumine in real-world settings. Methods: This was a non-interventional descriptive retrospective multi-centre national study. A census was conducted to estimate the number of patients diagnosed with ATTR amyloidosis who were still alive at the time of the study (defined as 1 June 2017). Patients with ATTR amyloidosis were contacted by French centres from the French Rare Diseases network program. Patients aged ≥18 years with hereditary transthyretin-mediated amyloidosis (ATTRv) or wild-type transthyretin amyloidosis (ATTRwt) or a pathogenic transthyretin (TTR) mutation were eligible. Results: Of the 38 centres (13 cardiology and 25 neurology) invited to participate, 22 (60.5%) (10 cardiology, 12 neurology) participated. There were 333 patients in cardiology census population. Before diagnosis one-fourth of the patients had cardiac decompensation, and one-fifth had a pacemaker. The 177 ATTRwt-CM patients were older (80.1 ± 7.0 years versus 64.2 ± 14.3 years; P < 0.001), had a higher incidence of hypertension (51.4% versus 35.3%; P = 0.003), and a higher incidence of arrhythmia (45.8% versus 28.3%; P = 0.001) than 156 ATTRv patients. There were no differences in disease severity according to New York Heart Association classification. The ATTRv-mixed + CM group had more neurological symptoms (paraesthesia or dysesthesia, neuropathic pain, digestive disorders, and orthostatic hypotension) than the ATTRwt-CM group (P < 0.001). Biopsies were performed on nearly 90% of patients with most of them being positive. The most common biopsy sites were salivary glands (137 biopsies) and cardiac tissues (77 biopsies). Tafamidis meglumine was administered to 174 cardiology patients, including 96 with ATTRv-mixed, 61 with ATTRwt-CM, and 17 with ATTRv-CM. Tafamidis meglumine was generally well tolerated. 18 adverse events, including 12 severe adverse events were reported in 174 patients as safety-related incidents. Tafamidis meglumine was likely responsible for five adverse events, one of which was severe. Conclusion: This study of real-world clinical ATTR amyloidosis cases in France further elucidated the characteristics of and diagnostic approach to a cardiology patient population census of 333 patients. As of June 1, 2017, 177 ATTRwt-CM, 117 ATTRv-mixed, and 39 ATTRv-CM patients were alive. Our experience with tafamidis meglumine in the cardiology population confirmed its good tolerance. |
| format | Article |
| id | doaj-art-9befceaceb8743989a4bb9bcd996f3bc |
| institution | OA Journals |
| issn | 2950-0087 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
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| series | Rare |
| spelling | doaj-art-9befceaceb8743989a4bb9bcd996f3bc2025-08-20T01:57:55ZengElsevierRare2950-00872024-01-01210002110.1016/j.rare.2024.100021Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)Thibaud Damy0Erwan Donal1Olivier Lairez2Jean-Christophe Eicher3Mounira Karoubi4Jean-Noël Trochu5Jocelyn Inamo6Gilbert Habib7François Roubille8Albert Hagège9Flore Morio10Eve Cariou11Jérôme Adda12Vincent Algalarrondo13Agathe Coste14Mathilde Bartoli15Jérémie Rudant16Lara Salvi17Bruno Francou18Anne Guiochon-Mantel19David Adams20Jean-Christophe Antoine21Shahram Attarian22Pascal Cintas23Raul Juntas Morales24Emmeline Lagrange25Laurent Magy26Martial Mallaret27Yann Péréon28Philippe Petiot29Cécile Cauquil30Céline Labeyrie31Andoni Echaniz-Laguna32Guilhem Sole33Céline Tard34Silvia Oghina35Philippe Charron36Michel Slama37Referral Center for Cardiac Amyloidosis, Department of Cardiology, Mondor Amyloidosis Network, GRC Amyloid Research Institute, CHU Henri Mondor, 1 Avenue Gustave Eiffel, 94000 Creteil and Université Paris Est Creteil and Univ Paris Est Creteil, INSERM, IMRB, Creteil F-94010, France; Correspondence to: Referral Center for Cardiac Amyloidosis, Department of Cardiology, Mondor Amyloidosis Network, GRC Amyloid Research Institute, APHP, CHU Henri Mondor, 1 Avenue Gustave Eiffel, Creteil 94000, France.University of Rennes, CHU Rennes, Inserm, LTSI – UMR 1099, Rennes F-35000, FranceCardiology Department, Rangueil Hospital, 1, avenue du Professeur Jean Poulhès - TSA 50032, Toulouse cedex 9 31059, FranceCardiology department, University Hospital of Dijon, Unité Thérapeutique d’Insuffisance Cardiaque (UTIC), Centre de Compétences Cardiomyopathies, Hôpital François Mitterrand, CHU de Dijon, 14 rue Paul Gaffarel, Dijon Cedex 21079, FranceReferral Center for Cardiac Amyloidosis, Department of Cardiology, Mondor Amyloidosis Network, GRC Amyloid Research Institute, CHU Henri Mondor, 1 Avenue Gustave Eiffel, 94000 Creteil and Université Paris Est Creteil and Univ Paris Est Creteil, INSERM, IMRB, Creteil F-94010, FranceNantes Université, CHU Nantes, CNRS, INSERM, Institut du thorax, Nantes F-44000, FranceCardiology Department, CHU Martinique, FranceAix Marseille Univ, URMITE and APHM, La Timone Hospital, Cardiology Department, Marseille, FrancePhyMedExp, Université de Montpellier, INSERM, CNRS, Cardiology Department, CHU de Montpellier, INI-CRT, FranceAP-HP, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Department of Cardiology, Paris; INSERM U9790; Université Paris Sorbonne Cité, Faculté de Médecine Paris Descartes, Paris, FranceNantes Université, CHU Nantes, CNRS, INSERM, Institut du thorax, Nantes F-44000, FranceCardiology Department, Rangueil Hospital, 1, avenue du Professeur Jean Poulhès - TSA 50032, Toulouse cedex 9 31059, FranceCardiology Department, CHU de Montpellier, Montpellier 34295, FranceCardiology Department, Hôpital Bichat, Centre de Compétence Amylose (CRMR-NNERF), 46 rue Henri Huchard 75018, Paris, and Université de Paris, FrancePfizer, 23-25 Av. du Dr Lannelongue, Paris Cedex 14 75668, FrancePfizer, 23-25 Av. du Dr Lannelongue, Paris Cedex 14 75668, FrancePfizer, 23-25 Av. du Dr Lannelongue, Paris Cedex 14 75668, FrancePfizer, 23-25 Av. du Dr Lannelongue, Paris Cedex 14 75668, FranceMolecular Genetics Pharmacogenomics and Hormonology Department, Hôpital Bicêtre, GHU Paris Saclay, AP-HP, Université Paris Saclay, 78, rue du général Leclerc, 94275-Le Kremlin-Bicêtre Cedex, France et INSERM UMR_S 1185, faculté de médecine Paris Saclay, Université Paris Saclay, FranceMolecular Genetics Pharmacogenomics and Hormonology Department, Hôpital Bicêtre, GHU Paris Saclay, AP-HP, Université Paris Saclay, 78, rue du général Leclerc, 94275-Le Kremlin-Bicêtre Cedex, France et INSERM UMR_S 1185, faculté de médecine Paris Saclay, Université Paris Saclay, FranceDepartment of Neurology, CHU Bicêtre, French reference center for familial Amyloid polyneuropathy, AP-HP, University Paris-Saclay, INSERM U 1195, Le Kremlin-Bicêtre, FranceCentre de référence maladies neuromusculaires rares, CHU Saint-Etienne, Avenue Albert Raymond, Saint-Priest-en-Jarez 42270, FranceAPHM, Timone University Hospital, Referral Center for Neuromuscular Diseases and ALS, Filnemus, Euro-NMD, Marseille, FranceCentre de référence neuromusculaire CHU Toulouse, place Baylac, Toulouse Cedex 9 31059, FranceALS center. Neurology Department. University Hospital of Montpellier. 80 Av. Augustin Fliche, Montpellier 34295, FranceCentre de compétence des maladies neuro-musculaires, CHU Grenoble Alpes, and Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble 38000, FranceService et Laboratoire de Neurologie, Centre de Référence 'Neuropathies périphériques Rares, NNerf', CHU Limoges, 2 Avenue Martin Luther King, Limoges Cedex 87 042, FranceCentre de compétence des maladies neuro-musculaires, CHU Grenoble Alpes, and Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble 38000, FranceCHU Nantes, Centre de Référence Maladies Neuromusculaire Rares AOC, Filnemus, Euro-NMD, Hôtel-Dieu, Nantes, FranceCentre medicina, 64 avenue Rockefeller, Lyon 69008, FranceDepartment of Neurology, CHU Bicêtre, French reference center for familial Amyloid polyneuropathy, AP-HP, University Paris-Saclay, INSERM U 1195, Le Kremlin-Bicêtre, FranceDepartment of Neurology, CHU Bicêtre, French reference center for familial Amyloid polyneuropathy, AP-HP, University Paris-Saclay, INSERM U 1195, Le Kremlin-Bicêtre, FranceDepartment of Neurology, CHU Bicêtre, French reference center for familial Amyloid polyneuropathy, AP-HP, University Paris-Saclay, INSERM U 1195, Le Kremlin-Bicêtre, FranceReferral Center for Neuromuscular Diseases ‘AOC’, Nerve-Muscle Unit, University Hospitals of Bordeaux (Pellegrin Hospital), University of Bordeaux, Bordeaux, FranceCentre de référence des maladies neuromusculaires Nord Est Ile de France, CHU de Lille, Lille U1172, FranceReferral Center for Cardiac Amyloidosis, Department of Cardiology, Mondor Amyloidosis Network, GRC Amyloid Research Institute, CHU Henri Mondor, 1 Avenue Gustave Eiffel, 94000 Creteil and Université Paris Est Creteil and Univ Paris Est Creteil, INSERM, IMRB, Creteil F-94010, FranceAPHP, Centre de référence pour les maladies cardiaques héréditaires ou rares, Hôpital Pitié-Salpêtrière, Sorbonne Université, INSERM UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition, Paris, FranceCardiology Department, Hôpital Bichat, Centre de Compétence Amylose (CRMR-NNERF), 46 rue Henri Huchard 75018, Paris, and Université de Paris, FranceAims: We designed a two-part epidemiological study, an observatory for amyloid transthyretin amyloidosis (OBSAMYL). The first objective was to identify and count the number of patients diagnosed with ATTR amyloidosis in participating French centres. The second was to evaluate the use and safety profile of tafamidis meglumine in real-world settings. Methods: This was a non-interventional descriptive retrospective multi-centre national study. A census was conducted to estimate the number of patients diagnosed with ATTR amyloidosis who were still alive at the time of the study (defined as 1 June 2017). Patients with ATTR amyloidosis were contacted by French centres from the French Rare Diseases network program. Patients aged ≥18 years with hereditary transthyretin-mediated amyloidosis (ATTRv) or wild-type transthyretin amyloidosis (ATTRwt) or a pathogenic transthyretin (TTR) mutation were eligible. Results: Of the 38 centres (13 cardiology and 25 neurology) invited to participate, 22 (60.5%) (10 cardiology, 12 neurology) participated. There were 333 patients in cardiology census population. Before diagnosis one-fourth of the patients had cardiac decompensation, and one-fifth had a pacemaker. The 177 ATTRwt-CM patients were older (80.1 ± 7.0 years versus 64.2 ± 14.3 years; P < 0.001), had a higher incidence of hypertension (51.4% versus 35.3%; P = 0.003), and a higher incidence of arrhythmia (45.8% versus 28.3%; P = 0.001) than 156 ATTRv patients. There were no differences in disease severity according to New York Heart Association classification. The ATTRv-mixed + CM group had more neurological symptoms (paraesthesia or dysesthesia, neuropathic pain, digestive disorders, and orthostatic hypotension) than the ATTRwt-CM group (P < 0.001). Biopsies were performed on nearly 90% of patients with most of them being positive. The most common biopsy sites were salivary glands (137 biopsies) and cardiac tissues (77 biopsies). Tafamidis meglumine was administered to 174 cardiology patients, including 96 with ATTRv-mixed, 61 with ATTRwt-CM, and 17 with ATTRv-CM. Tafamidis meglumine was generally well tolerated. 18 adverse events, including 12 severe adverse events were reported in 174 patients as safety-related incidents. Tafamidis meglumine was likely responsible for five adverse events, one of which was severe. Conclusion: This study of real-world clinical ATTR amyloidosis cases in France further elucidated the characteristics of and diagnostic approach to a cardiology patient population census of 333 patients. As of June 1, 2017, 177 ATTRwt-CM, 117 ATTRv-mixed, and 39 ATTRv-CM patients were alive. Our experience with tafamidis meglumine in the cardiology population confirmed its good tolerance.http://www.sciencedirect.com/science/article/pii/S2950008724000048TransthyretinAmyloidosisCardiomyopathyRare diseasesReal-world dataTafamidis meglumine |
| spellingShingle | Thibaud Damy Erwan Donal Olivier Lairez Jean-Christophe Eicher Mounira Karoubi Jean-Noël Trochu Jocelyn Inamo Gilbert Habib François Roubille Albert Hagège Flore Morio Eve Cariou Jérôme Adda Vincent Algalarrondo Agathe Coste Mathilde Bartoli Jérémie Rudant Lara Salvi Bruno Francou Anne Guiochon-Mantel David Adams Jean-Christophe Antoine Shahram Attarian Pascal Cintas Raul Juntas Morales Emmeline Lagrange Laurent Magy Martial Mallaret Yann Péréon Philippe Petiot Cécile Cauquil Céline Labeyrie Andoni Echaniz-Laguna Guilhem Sole Céline Tard Silvia Oghina Philippe Charron Michel Slama Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) Rare Transthyretin Amyloidosis Cardiomyopathy Rare diseases Real-world data Tafamidis meglumine |
| title | Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) |
| title_full | Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) |
| title_fullStr | Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) |
| title_full_unstemmed | Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) |
| title_short | Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) |
| title_sort | transthyretin amyloid cardiomyopathy in france a cross sectional multi centre study 333 patients |
| topic | Transthyretin Amyloidosis Cardiomyopathy Rare diseases Real-world data Tafamidis meglumine |
| url | http://www.sciencedirect.com/science/article/pii/S2950008724000048 |
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