The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during...
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Frontiers Media S.A.
2019-11-01
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Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2019.01182/full |
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Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ruben Marques Ruben Marques Elena Belousova Mirjana P. Benedik Tom Carter Vincent Cottin Paolo Curatolo Maria Dahlin Lisa D'Amato Guillaume Beaure d'Augères Petrus J. de Vries José C. Ferreira Martha Feucht Carla Fladrowski Carla Fladrowski Christoph Hertzberg Anna C. Jansen Sergiusz Jozwiak Sergiusz Jozwiak John C. Kingswood John A. Lawson Alfons Macaya Finbar O'Callaghan Jiong Qin Valentin Sander Matthias Sauter Seema Shah Yukitoshi Takahashi Renaud Touraine Sotiris Youroukos Bernard Zonnenberg Rima Nabbout |
spellingShingle |
Ruben Marques Ruben Marques Elena Belousova Mirjana P. Benedik Tom Carter Vincent Cottin Paolo Curatolo Maria Dahlin Lisa D'Amato Guillaume Beaure d'Augères Petrus J. de Vries José C. Ferreira Martha Feucht Carla Fladrowski Carla Fladrowski Christoph Hertzberg Anna C. Jansen Sergiusz Jozwiak Sergiusz Jozwiak John C. Kingswood John A. Lawson Alfons Macaya Finbar O'Callaghan Jiong Qin Valentin Sander Matthias Sauter Seema Shah Yukitoshi Takahashi Renaud Touraine Sotiris Youroukos Bernard Zonnenberg Rima Nabbout The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases Frontiers in Neurology lessons issues strengths weaknesses TOSCA registry |
author_facet |
Ruben Marques Ruben Marques Elena Belousova Mirjana P. Benedik Tom Carter Vincent Cottin Paolo Curatolo Maria Dahlin Lisa D'Amato Guillaume Beaure d'Augères Petrus J. de Vries José C. Ferreira Martha Feucht Carla Fladrowski Carla Fladrowski Christoph Hertzberg Anna C. Jansen Sergiusz Jozwiak Sergiusz Jozwiak John C. Kingswood John A. Lawson Alfons Macaya Finbar O'Callaghan Jiong Qin Valentin Sander Matthias Sauter Seema Shah Yukitoshi Takahashi Renaud Touraine Sotiris Youroukos Bernard Zonnenberg Rima Nabbout |
author_sort |
Ruben Marques |
title |
The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases |
title_short |
The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases |
title_full |
The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases |
title_fullStr |
The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases |
title_full_unstemmed |
The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases |
title_sort |
tosca registry for tuberous sclerosis—lessons learnt for future registry development in rare and complex diseases |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Neurology |
issn |
1664-2295 |
publishDate |
2019-11-01 |
description |
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during the design, execution, and publication phases of TOSCA, and to reflect on lessons learnt that may guide future registries in rare and complex diseases.Methods: A questionnaire was designed to identify the strengths, weaknesses, and issues that arose at any stage of development and implementation of the TOSCA registry. The questionnaire contained 225 questions distributed in 7 sections (identification of issues during registry planning, during the operation of the registry, during data analysis, during the publication of the results, other issues, assessment of lessons learnt, and additional comments), and was sent by e-mail to 511 people involved in the registry, including 28 members of the Scientific Advisory Board (SAB), 162 principal investigators (PIs), and 321 employees of the sponsor belonging to the medical department or that were clinical research associate (CRA). Questionnaires received within the 2 months from the initial mailing were included in the analysis.Results: A total of 53 (10.4%) questionnaires were received (64.3% for SAB members, 12.3% for PIs and 4.7% for employees of the sponsor), and the overall completeness rate for closed questions was 87.6%. The most common issues identified were the limited duration of the registry (38%) and issues related to handling of missing data (32%). In addition, 25% of the respondents commented that biases might have compromised the validity of the results. More than 80% of the respondents reported that the registry improved the knowledge on the natural history and manifestations of TSC, increased disease awareness and helped to identify relevant information for clinical research in TSC.Conclusions: This analysis shows the importance of registries as a powerful tool to increase disease awareness, to produce real-world evidence, and to generate questions for future research. However, there is a need to implement strategies to ensure patient retention and long-term sustainability of patient registries, to improve data quality, and to reduce biases. |
topic |
lessons issues strengths weaknesses TOSCA registry |
url |
https://www.frontiersin.org/article/10.3389/fneur.2019.01182/full |
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doaj-acb3460301534cc9a945482e7e3a42212020-11-25T01:15:00ZengFrontiers Media S.A.Frontiers in Neurology1664-22952019-11-011010.3389/fneur.2019.01182492865The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex DiseasesRuben Marques0Ruben Marques1Elena Belousova2Mirjana P. Benedik3Tom Carter4Vincent Cottin5Paolo Curatolo6Maria Dahlin7Lisa D'Amato8Guillaume Beaure d'Augères9Petrus J. de Vries10José C. Ferreira11Martha Feucht12Carla Fladrowski13Carla Fladrowski14Christoph Hertzberg15Anna C. Jansen16Sergiusz Jozwiak17Sergiusz Jozwiak18John C. Kingswood19John A. Lawson20Alfons Macaya21Finbar O'Callaghan22Jiong Qin23Valentin Sander24Matthias Sauter25Seema Shah26Yukitoshi Takahashi27Renaud Touraine28Sotiris Youroukos29Bernard Zonnenberg30Rima Nabbout31Novartis Farma S.p.A., Origgio, ItalyInstitute of Biomedicine (IBIOMED), University of Leon, León, SpainResearch and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, RussiaSPS Pediatrična Klinika, Ljubljana, SloveniaTuberous Sclerosis Association, Nottingham, United KingdomHôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, FranceTor Vergata University Hospital, Rome, ItalyKarolinska University Hospital, Stockholm, SwedenNovartis Farma S.p.A., Origgio, ItalyAssociation Sclérose Tubéreuse de Bourneville, Gradignan, France0Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa1Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal2Universitätsklinik für Kinder-und Jugendheilkunde, Vienna, Austria3Associazione Sclerosi Tuberosa ONLUS, Milan, Italy4European Tuberous Sclerosis Complex Association, In den Birken, Datteln, Germany5Vivantes-Klinikum Neukölln, Berlin, Germany6Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium7Department of Child Neurology, Warsaw Medical University, Warsaw, Poland8Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland9Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, United Kingdom0The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia1Hospital Universitari Vall d'Hebron, Barcelona, Spain2Institute of Child Health, University College London, London, United Kingdom3Department of Pediatrics, Peking University People's Hospital, Beijing, China4Tallinn Children Hospital, Tallinn, Estonia5Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany6Novartis Healthcare Pvt. Ltd., Hyderabad, India7National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Shizuoka, Japan8Department of Genetics, CHU-Hôpital Nord, Saint Etienne, France9St. Sophia Children's Hospital, Athens, Greece0University Medical Center, Utrecht, Netherlands1Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Inserm U1163, Paris Descartes University, Paris, FranceIntroduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during the design, execution, and publication phases of TOSCA, and to reflect on lessons learnt that may guide future registries in rare and complex diseases.Methods: A questionnaire was designed to identify the strengths, weaknesses, and issues that arose at any stage of development and implementation of the TOSCA registry. The questionnaire contained 225 questions distributed in 7 sections (identification of issues during registry planning, during the operation of the registry, during data analysis, during the publication of the results, other issues, assessment of lessons learnt, and additional comments), and was sent by e-mail to 511 people involved in the registry, including 28 members of the Scientific Advisory Board (SAB), 162 principal investigators (PIs), and 321 employees of the sponsor belonging to the medical department or that were clinical research associate (CRA). Questionnaires received within the 2 months from the initial mailing were included in the analysis.Results: A total of 53 (10.4%) questionnaires were received (64.3% for SAB members, 12.3% for PIs and 4.7% for employees of the sponsor), and the overall completeness rate for closed questions was 87.6%. The most common issues identified were the limited duration of the registry (38%) and issues related to handling of missing data (32%). In addition, 25% of the respondents commented that biases might have compromised the validity of the results. More than 80% of the respondents reported that the registry improved the knowledge on the natural history and manifestations of TSC, increased disease awareness and helped to identify relevant information for clinical research in TSC.Conclusions: This analysis shows the importance of registries as a powerful tool to increase disease awareness, to produce real-world evidence, and to generate questions for future research. However, there is a need to implement strategies to ensure patient retention and long-term sustainability of patient registries, to improve data quality, and to reduce biases.https://www.frontiersin.org/article/10.3389/fneur.2019.01182/fulllessonsissuesstrengthsweaknessesTOSCAregistry |