Karim Wahbi1,2,3, Raphaël Porcher4,5,6, Pascal Laforêt2, Abdallah Fayssoil2, Henri Marc Bécane2, Arnaud Lazarus7, Maximilien Sochala1, Tanya Stojkovic2, Anthony Béhin2, Sarah Leonard-Louis2, Pauline Arnaud8, Denis Furling9, Vincent Probst10,11, Dominique Babuty12, Sybille Pellieux13, Nicolas Clementy12, Guillaume Bassez2, Yann Péréon14, Bruno Eymard2, Denis Duboc1,2,3. 1. Cardiology Department, Cochin Hospital, Filière Neuromusculaire, Paris-Descartes University, Sorbonne Paris Cité University, Assistance Publique-Hôpitaux de Paris, Paris, France. 2. Neurology Department, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Myology Institute, Filière Neuromusculaire, Pitié-Salpêtrière Hospital, Paris, France. 3. Thérapie des Maladies du Muscle Strié, Institut de Myologie, INSERM UMRS 974, Paris, France. 4. Assistance Publique-Hôpitaux de Paris, Hôtel-Dieu, Centre d'Epidémiologie Clinique, Paris, France. 5. Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité, INSERM U1153, Paris, France. 6. Paris Descartes University, Sorbonne Paris Cité, Paris, France. 7. InParys Clinical Research Group, Clinique Ambroise Paré, Neuilly sur Seine, France. 8. Département de Génétique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France. 9. Paris-Sorbonne Université, UPMC, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Centre de Recherches en Myologie, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. 10. L'Unite de Recherche de l'Institut du Thorax, Université de Nantes, INSERM UMR 1087, Nantes, France. 11. Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Centre d'Investigation Clinique, Centre de Référence pour la Prise en Charge des Maladies Rythmiques Héréditaires de Nantes, Nantes, France. 12. Cardiology Department, Université François Rabelais, Centre Hospitalier Régional Universitaire de Tours, Tours, France. 13. Functional Readaptation Department, Université François Rabelais, Centre Hospitalier Régional Universitaire de Tours, Tours, France. 14. Centre de Référence des Maladies Neuromusculaires Rares Nantes-Angers, Filière Neuromusculaire, Centre Hospitalier Universitaire de Nantes, Nantes, France.
Abstract
Importance: Life expectancy is greatly shortened in patients presenting with myotonic dystrophy type 1 (DM1), the most common neuromuscular disease. A reliable prediction of survival in patients with DM1 is critically important to plan personalized health supervision. Objective: To develop and validate a prognostic score to predict 10-year survival in patients with DM1. Design, Setting, and Participants: In this longitudinal cohort study, between January 2000 and November 2014, we enrolled 1296 adults referred to 4 tertiary neuromuscular centers in France for management of genetically proven DM1, including 1066 patients in the derivation cohort and 230 in the validation cohort. Data were analyzed from December 2016 to March 2017. Main Outcomes and Measures: Factors associated with survival by multiple variable Cox modeling, including 95% confidence intervals, and development of a predictive score validated internally and externally. Mean values are reported with their standard deviations. Results: Of the 1296 included patients, 670 (51.7%) were women, and the mean (SD) age was 39.8 (13.7) years. Among the 1066 patients (82.3%) in the derivation cohort, 241 (22.6%) died over a median (interquartile range) follow-up of 11.7 (7.7-14.3) years. Age, diabetes, need for support when walking, heart rate, systolic blood pressure, first-degree atrioventricular block, bundle-branch block, and lung vital capacity were associated with death. Simplified score points were attributed to each predictor, and adding these points yielded scores between 0 and 20, with 0 indicating the lowest and 20 the highest risk of death. The 10-year survival rate was 96.6% (95% CI, 94.4-98.9) in the group with 0 to 4 points, 92.2% (95% CI, 88.8-95.6) in the group with 5 to 7 points, 80.7% (95% CI, 75.4-86.1) in the group with 8 to 10 points, 57.9% (95% CI, 49.2-66.6) in the group with 11 to 13 points, and 19.4% (95% CI, 8.6-30.1) in the group with 14 points or more. In 230 patients (17.7%) included in the validation cohort, the 10-year survival rates for the groups with 0 to 4, 5 to 7, 8 to 10, 11 to 13, and 14 points or more were 99.3% (95% CI, 95.0-100), 80.6% (95% CI, 67.1-96.7), 79.3% (95% CI, 66.2-95.1), 43.2% (95% CI, 28.2-66.1), and 21.6% (95% CI, 10.0-46.8), respectively. The calibration curves did not deviate from the reference line. The C index was 0.753 (95% CI, 0.722-0.785) in the derivation cohort and 0.806 (95% CI, 0.758-0.855) in the validation cohort. Conclusions and Relevance: The DM1 prognostic score is associated with long-term survival.
Importance: Life expectancy is greatly shortened in patients presenting with myotonic dystrophy type 1 (DM1), the most common neuromuscular disease. A reliable prediction of survival in patients with DM1 is critically important to plan personalized health supervision. Objective: To develop and validate a prognostic score to predict 10-year survival in patients with DM1. Design, Setting, and Participants: In this longitudinal cohort study, between January 2000 and November 2014, we enrolled 1296 adults referred to 4 tertiary neuromuscular centers in France for management of genetically proven DM1, including 1066 patients in the derivation cohort and 230 in the validation cohort. Data were analyzed from December 2016 to March 2017. Main Outcomes and Measures: Factors associated with survival by multiple variable Cox modeling, including 95% confidence intervals, and development of a predictive score validated internally and externally. Mean values are reported with their standard deviations. Results: Of the 1296 included patients, 670 (51.7%) were women, and the mean (SD) age was 39.8 (13.7) years. Among the 1066 patients (82.3%) in the derivation cohort, 241 (22.6%) died over a median (interquartile range) follow-up of 11.7 (7.7-14.3) years. Age, diabetes, need for support when walking, heart rate, systolic blood pressure, first-degree atrioventricular block, bundle-branch block, and lung vital capacity were associated with death. Simplified score points were attributed to each predictor, and adding these points yielded scores between 0 and 20, with 0 indicating the lowest and 20 the highest risk of death. The 10-year survival rate was 96.6% (95% CI, 94.4-98.9) in the group with 0 to 4 points, 92.2% (95% CI, 88.8-95.6) in the group with 5 to 7 points, 80.7% (95% CI, 75.4-86.1) in the group with 8 to 10 points, 57.9% (95% CI, 49.2-66.6) in the group with 11 to 13 points, and 19.4% (95% CI, 8.6-30.1) in the group with 14 points or more. In 230 patients (17.7%) included in the validation cohort, the 10-year survival rates for the groups with 0 to 4, 5 to 7, 8 to 10, 11 to 13, and 14 points or more were 99.3% (95% CI, 95.0-100), 80.6% (95% CI, 67.1-96.7), 79.3% (95% CI, 66.2-95.1), 43.2% (95% CI, 28.2-66.1), and 21.6% (95% CI, 10.0-46.8), respectively. The calibration curves did not deviate from the reference line. The C index was 0.753 (95% CI, 0.722-0.785) in the derivation cohort and 0.806 (95% CI, 0.758-0.855) in the validation cohort. Conclusions and Relevance: The DM1 prognostic score is associated with long-term survival.
Authors: Thomas G Pickering; John E Hall; Lawrence J Appel; Bonita E Falkner; John Graves; Martha N Hill; Daniel W Jones; Theodore Kurtz; Sheldon G Sheps; Edward J Roccella Journal: Circulation Date: 2005-02-08 Impact factor: 29.690
Authors: Bettine A H Vosse; Charlotte Seijger; Nicolle Cobben; Baziel van Engelen; Sander M J van Kuijk; Catharina Faber; Peter Wijkstra Journal: Respiration Date: 2021-05-07 Impact factor: 3.580
Authors: Sylvia Nieuwenhuis; Kees Okkersen; Joanna Widomska; Paul Blom; Peter A C 't Hoen; Baziel van Engelen; Jeffrey C Glennon Journal: Front Neurol Date: 2019-11-26 Impact factor: 4.003
Authors: John Noel Viana; Sarah Edney; Shakuntla Gondalia; Chelsea Mauch; Hamza Sellak; Nathan O'Callaghan; Jillian C Ryan Journal: BMJ Open Date: 2021-10-25 Impact factor: 2.692