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Article Dans Une Revue Frontiers in Neurology Année : 2021

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

1 University of Tübingen
2 DZNE - Deutsches Zentrum für Neurodegenerative Erkrankungen [Ulm]
3 Universidad de Sevilla = University of Seville
4 CIBERNED - Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas
5 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
6 HUS - Les Hôpitaux Universitaires de Strasbourg
7 Hôpital de Hautepierre [Strasbourg]
8 FMTS - Fédération de Médecine Translationnelle de Strasbourg
9 TUMS - Tehran University of Medical Sciences
10 UA - University of Antwerp
11 UZA - Antwerp University Hospital [Edegem]
12 Koç University
13 IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital
14 McGill University = Université McGill [Montréal, Canada]
15 UdeS - Université de Sherbrooke
16 Leipzig University / Universität Leipzig
17 Istanbul University
18 CHU Pitié-Salpêtrière [AP-HP]
19 CAM - University of Cambridge [UK]
20 University of Rostock
21 University of Szeged [Szeged]
22 LMU - Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München
23 DZNE - German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen
24 SyNergy - Munich Cluster for systems neurology [Munich]
25 Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf]
26 FZ Juelich
27 Universität zu Lübeck = University of Lübeck [Lübeck]
28 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
29 NGERE - Nutrition-Génétique et Exposition aux Risques Environnementaux
30 University of Auckland [Auckland]
31 IRCCS Fondazione Stella Maris [Pisa]
32 Università degli Studi di Roma Tor Vergata [Roma] = University of Rome Tor Vergata
33 UMCG - University Medical Center Groningen [Groningen]
34 Universität Duisburg-Essen = University of Duisburg-Essen [Essen]
35 OVGU - Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University [Magdeburg]
36 Radboud University Medical Center [Nijmegen]
37 UMMSM - University of Miami Leonard M. Miller School of Medicine
38 University Hospital Bonn
A. Nazli Basak
  • Fonction : Auteur
Michael Wallner
  • Fonction : Auteur

Résumé

Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of targeted therapies for ARCAs, disease registries have become a precious source of real-world quantitative and qualitative data complementing knowledge from preclinical studies and clinical trials. Here, we review the ARCA Registry, a global collaborative multicenter platform (>15 countries, >30 sites) with the overarching goal to advance trial readiness in ARCAs. It presents a good clinical practice (GCP)- and general data protection regulation (GDPR)-compliant professional-reported registry for multicenter web-based capture of cross-center standardized longitudinal data. Modular electronic case report forms (eCRFs) with core, extended, and optional datasets allow data capture tailored to the participating site's variable interests and resources. The eCRFs cover all key data elements required by regulatory authorities [European Medicines Agency (EMA)] and the European Rare Disease (ERD) platform. They capture genotype, phenotype, and progression and include demographic data, biomarkers, comorbidity, medication, magnetic resonance imaging (MRI), and longitudinal clinician- or patient-reported ratings of ataxia severity, non-ataxia features, disease stage, activities of daily living, and (mental) health status. Moreover, they are aligned to major autosomal-dominant spinocerebellar ataxia (SCA) and sporadic ataxia (SPORTAX) registries in the field, thus allowing for joint and comparative analyses not only across ARCAs but also with SCAs and sporadic ataxias. The registry is at the core of a systematic multi-component ARCA database cluster with a linked biobank and an evolving study database for digital outcome measures. Currently, the registry contains more than 800 patients with almost 1,500 visits representing all ages and disease stages; 65% of patients with established genetic diagnoses capture all the main ARCA genes, and 35% with unsolved diagnoses are targets for advanced next-generation sequencing. The ARCA Registry serves as the backbone of many major European and transatlantic consortia, such as PREPARE, PROSPAX, and the Ataxia Global Initiative, with additional data input from SPORTAX. It has thus become the largest global trial-readiness registry in the ARCA field.
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hal-03709482 , version 1 (18-11-2022)

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Andreas Traschütz, Selina Reich, Astrid D. Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, et al.. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Frontiers in Neurology, 2021, 12, pp.677551. ⟨10.3389/fneur.2021.677551⟩. ⟨hal-03709482⟩
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