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Lymphangioleiomyomatosis in TOSCA - TuberOus SClerosis registry to increAse disease awareness

Vincent Cottin, John C. Kingswood, Martha Feucht, Paolo Bruzzi, Tom Carter, Paolo Curatolo, Petrus J. De Vries, Carla Fladrowski, Christoph Hertzberg, Anna Jansen, Sergiusz Jozwiak, Rima Nabbout, Finbar O'Callaghan, Matthias Sauter, Renaud Touraine, Sotirios Youroukos, Bernard Zonnenberg, Guillaume Beaure d'Augère, Elena Belousova, Maria Dahlin, José C. Ferreira, John Lawson, Benedick Perkovic, Alfons Macaya, Valentin Sander, Stefania Crippa, Bulent Ulker, Ramon Castellana
European Respiratory Journal 2014 44: P3499; DOI:
Vincent Cottin
Service de Pneumologie, Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France
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John C. Kingswood
Sussex Kidney Unit, Royal Sussex County Hospital, Brighton, United Kingdom
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Martha Feucht
Department of Pediatrics, Universitätsklinik für Psychiatrie des Kinder-und Jugendheilkunde, Vienna, Austria
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Paolo Bruzzi
S.C. Epidemiologia Clinica, IRCCS AUO San Martino IST – Istituto Nazionale per la Ricerc asul Cancro, Genoa, Italy
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Tom Carter
TSA Tuberous Sclerosis Association, TSA Tuberous Sclerosis Association, Nottingham, United Kingdom
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Paolo Curatolo
Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy
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Petrus J. De Vries
Division of Child & Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa
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Carla Fladrowski
Associazione Sclerosi Tuberosa ONLUS, Associazione Sclerosi Tuberosa ONLUS, Rome, Italy
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Christoph Hertzberg
Zentrums für Sozial- und Neuropädiatrie, Vivantes-Klinikum Neukölln, Berlin, Germany
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Anna Jansen
Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium
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Sergiusz Jozwiak
Department of Neurology, The Children’s Memorial Health Institute of Warsaw, Warsaw, Poland
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Rima Nabbout
Department of Pediatric Neurology, Hospital Necker Enfants Malades, Paris, France
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Finbar O'Callaghan
Neurosciences Unit, UCL – Institute of Child Health, London, United Kingdom
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Matthias Sauter
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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Renaud Touraine
Service de Génétique Clinique, Chromosomique et Moléculaire, Hôpital Nord, Saint Etienne, France
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Sotirios Youroukos
First Department of Paediatrics, St. Sophia Children’s Hospital, Athens, Greece
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Bernard Zonnenberg
Department of Internal Medicine, University Medical Center, Utrecht, Netherlands
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Guillaume Beaure d'Augère
Association Sclérose Tubéreuse de Bourneville, Association Sclérose Tubéreuse de Bourneville, Castelmaurou, France
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Elena Belousova
Department of Psychoneurology and Epileptology, Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation
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Maria Dahlin
Department of Neuropediatrics, Karolinska University Hospital, Stockholm, Sweden
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José C. Ferreira
Pediatric Neurology Department, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal
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John Lawson
The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children’s Hospital, Randwick - Sydney, Australia
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Benedick Perkovic
Department of Child, Adolescent& Developmental Neurology, University Children's Hospital, Ljubljana, Slovenia
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Alfons Macaya
Secció de Neurologia Infantil, Hospital Universitari Vall d’Hebron, Barcelona, Spain
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Valentin Sander
Neurology Department, Tallinn Children Hospital, Tallinn, Estonia
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Stefania Crippa
Oncology Region Europe, Novartis Farma SpA, Origgio, Italy
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Bulent Ulker
Oncology EGM, Novartis Pharma AG, Basel, Switzerland
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Ramon Castellana
Oncology Region Europe, Novartis Farma SpA, Origgio, Italy
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Abstract

Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting multiple organ systems. TOSCA is a multinational disease registry designed to map the course of TSC manifestations including lymphangioleiomyomatosis (LAM), identify rare symptoms/co-morbidities, record interventions and outcomes, and contribute to creation of an evidence-base for disease assessment and therapy. Patients of any age diagnosed with TSC, with a documented visit in the last 12 months or newly diagnosed are eligible. An enrolment of about 2000 pts in 31 countries and a follow-up to 5 yrs are planned. Collaborative working between clinical experts, patient advocates and a pharmaceutical company is a key element of TOSCA. Data from the first interim analysis about lung involvement are presented. As of 12 July 2013, baseline core data from 508 pts were entered in TOSCA (44.9% male). Patient median age was 16 yrs (range: 0-71 yrs), 235 pts> 18yrs. Median age of TSC diagnosis was 1 yr (range: 0-67 yrs). Thirty-five pts (14.9% of adults) were diagnosed with LAM (94.3% female) and the median age of LAM diagnosis was 32 yrs (range: 17-56 yrs). LAM was symptomatic in 13 female pts, namely shortness of breath (22.9%), pneumothorax (17.1%), lung collapse, chest pain and other (8.6% each). Twenty-eight pts (5.5%) had other pulmonary conditions including multifocal multinodular pneumocyte hyperplasia (46.4%), angiomyolipoma (10.7%), pulmonary hypertension (3.6%), other (39.3%). The first interim analysis of TOSCA suggests that under conditions of standard clinical care, LAM could be underdiagnosed in TSC in comparison to studies with systematic screening for LAM.

  • Interstitial lung disease
  • © 2014 ERS
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Lymphangioleiomyomatosis in TOSCA - TuberOus SClerosis registry to increAse disease awareness
Vincent Cottin, John C. Kingswood, Martha Feucht, Paolo Bruzzi, Tom Carter, Paolo Curatolo, Petrus J. De Vries, Carla Fladrowski, Christoph Hertzberg, Anna Jansen, Sergiusz Jozwiak, Rima Nabbout, Finbar O'Callaghan, Matthias Sauter, Renaud Touraine, Sotirios Youroukos, Bernard Zonnenberg, Guillaume Beaure d'Augère, Elena Belousova, Maria Dahlin, José C. Ferreira, John Lawson, Benedick Perkovic, Alfons Macaya, Valentin Sander, Stefania Crippa, Bulent Ulker, Ramon Castellana
European Respiratory Journal Sep 2014, 44 (Suppl 58) P3499;

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Lymphangioleiomyomatosis in TOSCA - TuberOus SClerosis registry to increAse disease awareness
Vincent Cottin, John C. Kingswood, Martha Feucht, Paolo Bruzzi, Tom Carter, Paolo Curatolo, Petrus J. De Vries, Carla Fladrowski, Christoph Hertzberg, Anna Jansen, Sergiusz Jozwiak, Rima Nabbout, Finbar O'Callaghan, Matthias Sauter, Renaud Touraine, Sotirios Youroukos, Bernard Zonnenberg, Guillaume Beaure d'Augère, Elena Belousova, Maria Dahlin, José C. Ferreira, John Lawson, Benedick Perkovic, Alfons Macaya, Valentin Sander, Stefania Crippa, Bulent Ulker, Ramon Castellana
European Respiratory Journal Sep 2014, 44 (Suppl 58) P3499;
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