European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases

Katina Aleksovska^{1

2

3}, Teia Kobulashvili⁴, Joao Costa⁵, Georg Zimmermann^{4

6

7}, Karen Ritchie⁸, Carola Reinhard^{9

10}, Luca Vignatelli¹¹, Alessandra Fanciulli¹², Maxwel Damian¹³, Lucia Pavlakova¹, Jean-Marc Burgunder^{14

15}, Svetlana Kopishinskaya¹⁶, Martin Rakusa¹⁷, Norbert Kovacs^{3

18}, Fusun Ferda Erdogan¹⁹, Lori Renna Linton²⁰, Massimiliano Copetti²¹, Costanza Lamperti²², Serenella Servidei²³, Theresina Evangelista^{24

25}, Segolene Ayme²⁶, Davide Pareyson²⁷, Johann Sellner²⁸, Christian Krarup^{29

30}, Marianne de Visser³¹, Peter van den Bergh³², Antonio Toscano³³, Holm Graessner^{9

10}, Thomas Berger³⁴, Claudio Bassetti³⁵, Marie Vidailhet^{9

36}, Eugene Trinka^{4

37

38}, Guenther Deuschl³⁹, Antonio Federico^{9

40}, Maurizio A Leone²

Affiliations

¹ European Academy of Neurology, Vienna, Austria.
² SC Neurology, Department of Emergency and Critical Care, Fondazione IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy.
³ Clinic of Neurology, Medical Faculty, Ss. Cyril and Methodius University, Skopje, N. Macedonia.
⁴ Department of Neurology, Christian Doppler University Hospital, Paracelsus Medical University, Affiliated Partner of the ERN EpiCARE, Salzburg, Austria.
⁵ Laboratório de Farmacologia Clínica e Terapêutica, Faculdade de Medicina, Instituto de Medicina Molecular, Universidade de Lisboa, Lisboa, Portugal.
⁶ Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Salzburg, Austria.
⁷ Department of Research and Innovation, Paracelsus Medical University, Salzburg, Austria.
⁸ Healthcare Improvement Scotland, Glasgow, UK.
⁹ Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
¹⁰ Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.
¹¹ IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
¹² Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
¹³ Neurology and Neurointensive Care, Cambridge University Hospitals and Ipswich Hospital, Cambridge, UK.
¹⁴ Swiss Huntington Center, Neurozentrum Siloah AG, Gümligen, Switzerland.
¹⁵ Department of Neurology, University of Bern, Bern, Switzerland.
¹⁶ Nizhny Novgorod State Medical Academy, Niznij Novgorod, Russian Federation.
¹⁷ Department of Neurology, University Medical Centre Maribor, Maribor, Slovenia.
¹⁸ Department of Neurology, Medical School, University of Pecs, Pecs, Hungary.
¹⁹ Department of Neurology, Erciyes University, Melikgazi-Kayseri, Turkey.
²⁰ EuroHSP, Federation of National Groups Related With Hereditary Spastic Paraplegia, Paris, France.
²¹ Unit of Biostatistics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy.
²² Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
²³ Fondazione Policlinico Universitario IRCCS Roma, Università Cattolica del Sacro Cuore, Italy.
²⁴ Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
²⁵ AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Sorbonne Université - Inserm UMRS 974, Paris, France.
²⁶ Paris Brain Institute-ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universite, Paris, France.
²⁷ Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
²⁸ Department of Neurology, Landesklinikum Mistelbach-Gänserndorf, Mistelbach, Austria.
²⁹ Clinical Neurophysiology, Department of Clinical Neurophysiology, Rigshospitalet, Copenhagen, Denmark.
³⁰ Department of Clinical Medicine and Department of Neuroscience, University of Copenhagen, Copenhagen, Denmark.
³¹ Department of Neurology, Amsterdam University Medical Centre, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, The Netherlands.
³² Neuromuscular Reference Centre UCL St-Luc, University Hospital St-Luc, Brussels, Belgium.
³³ Department of Clinical and Experimental Medicine, Neurology and Neuromuscular Disorders Unit, AOU Policlinico di Messina, Messina, Italy.
³⁴ Department of Neurology, Medical University of Vienna, Vienna, Austria.
³⁵ Neurology Department, Medical Faculty, University Hospital, Bern, Switzerland.
³⁶ Department de Neurologie, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, AP-HP, Hospital Salpetriere, Sorbonne Université, Paris, France.
³⁷ Neuroscience Institute, Centre for Cognitive Neuroscience, Christian Doppler University Hospital, Salzburg, Austria.
³⁸ Department of Public Health, Health Services Research and Health Technology Assessment, UMIT-University for Health Sciences, Medical Informatics and Technology, Hall in Tirol, Austria.
³⁹ Department of Neurology, Christian Albrecht's University, Kiel, Germany.
⁴⁰ Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.

PMID: 35318776
DOI: 10.1111/ene.15267

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases

Katina Aleksovska et al. Eur J Neurol. 2022 Jun.

. 2022 Jun;29(6):1571-1586.

doi: 10.1111/ene.15267. Epub 2022 Mar 23.

Authors

Affiliations

¹ European Academy of Neurology, Vienna, Austria.
² SC Neurology, Department of Emergency and Critical Care, Fondazione IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy.
³ Clinic of Neurology, Medical Faculty, Ss. Cyril and Methodius University, Skopje, N. Macedonia.
⁴ Department of Neurology, Christian Doppler University Hospital, Paracelsus Medical University, Affiliated Partner of the ERN EpiCARE, Salzburg, Austria.
⁵ Laboratório de Farmacologia Clínica e Terapêutica, Faculdade de Medicina, Instituto de Medicina Molecular, Universidade de Lisboa, Lisboa, Portugal.
⁶ Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Salzburg, Austria.
⁷ Department of Research and Innovation, Paracelsus Medical University, Salzburg, Austria.
⁸ Healthcare Improvement Scotland, Glasgow, UK.
⁹ Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
¹⁰ Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.
¹¹ IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
¹² Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
¹³ Neurology and Neurointensive Care, Cambridge University Hospitals and Ipswich Hospital, Cambridge, UK.
¹⁴ Swiss Huntington Center, Neurozentrum Siloah AG, Gümligen, Switzerland.
¹⁵ Department of Neurology, University of Bern, Bern, Switzerland.
¹⁶ Nizhny Novgorod State Medical Academy, Niznij Novgorod, Russian Federation.
¹⁷ Department of Neurology, University Medical Centre Maribor, Maribor, Slovenia.
¹⁸ Department of Neurology, Medical School, University of Pecs, Pecs, Hungary.
¹⁹ Department of Neurology, Erciyes University, Melikgazi-Kayseri, Turkey.
²⁰ EuroHSP, Federation of National Groups Related With Hereditary Spastic Paraplegia, Paris, France.
²¹ Unit of Biostatistics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy.
²² Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
²³ Fondazione Policlinico Universitario IRCCS Roma, Università Cattolica del Sacro Cuore, Italy.
²⁴ Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
²⁵ AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Sorbonne Université - Inserm UMRS 974, Paris, France.
²⁶ Paris Brain Institute-ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universite, Paris, France.
²⁷ Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
²⁸ Department of Neurology, Landesklinikum Mistelbach-Gänserndorf, Mistelbach, Austria.
²⁹ Clinical Neurophysiology, Department of Clinical Neurophysiology, Rigshospitalet, Copenhagen, Denmark.
³⁰ Department of Clinical Medicine and Department of Neuroscience, University of Copenhagen, Copenhagen, Denmark.
³¹ Department of Neurology, Amsterdam University Medical Centre, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, The Netherlands.
³² Neuromuscular Reference Centre UCL St-Luc, University Hospital St-Luc, Brussels, Belgium.
³³ Department of Clinical and Experimental Medicine, Neurology and Neuromuscular Disorders Unit, AOU Policlinico di Messina, Messina, Italy.
³⁴ Department of Neurology, Medical University of Vienna, Vienna, Austria.
³⁵ Neurology Department, Medical Faculty, University Hospital, Bern, Switzerland.
³⁶ Department de Neurologie, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, AP-HP, Hospital Salpetriere, Sorbonne Université, Paris, France.
³⁷ Neuroscience Institute, Centre for Cognitive Neuroscience, Christian Doppler University Hospital, Salzburg, Austria.
³⁸ Department of Public Health, Health Services Research and Health Technology Assessment, UMIT-University for Health Sciences, Medical Informatics and Technology, Hall in Tirol, Austria.
³⁹ Department of Neurology, Christian Albrecht's University, Kiel, Germany.
⁴⁰ Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.

PMID: 35318776
DOI: 10.1111/ene.15267

Abstract

Background and purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficient treatment choices are common. Clinical practice guidelines (CPGs) may improve the diagnosis and treatment of patients and optimize care pathways, delivering the best scientific evidence to all clinicians treating these patients. Recommendations are set for developing and reporting high-quality CPGs on rare neurological diseases (RNDs) within the European Academy of Neurology (EAN), through a consensus procedure.

Methods: A group of 27 experts generated an initial list of items that were evaluated through a two-step Delphi consensus procedure and a face-to-face meeting. The final list of items was reviewed by an external review group of 58 members.

Results: The consensus procedure yielded 63 final items. Items are listed according to the domains of the AGREE instruments and concern scope and purpose, stakeholder involvement, rigour of development, and applicability. Additional items consider reporting and ethical issues. Recommendations are supported by practical examples derived from published guidelines and are presented in two tables: (1) items specific to RND CPGs, and general guideline items of special importance for RNDs, or often neglected; (2) items for guideline development within the EAN.

Conclusions: This guidance aims to provide solutions to the issues specific to RNDs. This consensus document, produced by many experts in various fields, is considered to serve as a starting point for further harmonization and for increasing the quality of CPGs in the field of RNDs.

Keywords: AGREE; Delphi; consensus; guideline; neurology; rare diseases; recommendation.

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European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases

Affiliations

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases

Authors

Affiliations

Abstract

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