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000893927 1001_ $$0P:(DE-HGF)0$$aTraschütz, Andreas$$b0
000893927 245__ $$aThe ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
000893927 260__ $$aLausanne$$bFrontiers Research Foundation$$c2021
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000893927 520__ $$aAutosomal 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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000893927 7001_ $$0P:(DE-HGF)0$$aReich, Selina$$b1
000893927 7001_ $$0P:(DE-HGF)0$$aAdarmes, Astrid D.$$b2
000893927 7001_ $$0P:(DE-HGF)0$$aAnheim, Mathieu$$b3
000893927 7001_ $$0P:(DE-HGF)0$$aAshrafi, Mahmoud Reza$$b4
000893927 7001_ $$0P:(DE-HGF)0$$aBaets, Jonathan$$b5
000893927 7001_ $$0P:(DE-HGF)0$$aBasak, A. Nazli$$b6
000893927 7001_ $$0P:(DE-HGF)0$$aBertini, Enrico$$b7
000893927 7001_ $$0P:(DE-HGF)0$$aBrais, Bernard$$b8
000893927 7001_ $$0P:(DE-HGF)0$$aGagnon, Cynthia$$b9
000893927 7001_ $$0P:(DE-HGF)0$$aGburek-Augustat, Janina$$b10
000893927 7001_ $$0P:(DE-HGF)0$$aHanagasi, Hasmet A.$$b11
000893927 7001_ $$0P:(DE-HGF)0$$aHeinzmann, Anna$$b12
000893927 7001_ $$0P:(DE-HGF)0$$aHorvath, Rita$$b13
000893927 7001_ $$0P:(DE-HGF)0$$ade Jonghe, Peter$$b14
000893927 7001_ $$0P:(DE-HGF)0$$aKamm, Christoph$$b15
000893927 7001_ $$0P:(DE-HGF)0$$aKlivenyi, Peter$$b16
000893927 7001_ $$0P:(DE-HGF)0$$aKlopstock, Thomas$$b17
000893927 7001_ $$0P:(DE-Juel1)131622$$aMinnerop, Martina$$b18
000893927 7001_ $$aMünchau, Alexander$$b19
000893927 7001_ $$aRenaud, Mathilde$$b20
000893927 7001_ $$aRoxburgh, Richard H.$$b21
000893927 7001_ $$aSantorelli, Filippo M.$$b22
000893927 7001_ $$aSchirinzi, Tommaso$$b23
000893927 7001_ $$aSival, Deborah A.$$b24
000893927 7001_ $$aTimmann, Dagmar$$b25
000893927 7001_ $$aVielhaber, Stefan$$b26
000893927 7001_ $$aWallner, Michael$$b27
000893927 7001_ $$avan de Warrenburg, Bart P.$$b28
000893927 7001_ $$aZanni, Ginevra$$b29
000893927 7001_ $$aZuchner, Stephan$$b30
000893927 7001_ $$aKlockgether, Thomas$$b31
000893927 7001_ $$aSchüle, Rebecca$$b32
000893927 7001_ $$aSchöls, Ludger$$b33
000893927 7001_ $$0P:(DE-HGF)0$$aSynofzik, Matthis$$b34$$eCorresponding author
000893927 773__ $$0PERI:(DE-600)2564214-5$$a10.3389/fneur.2021.677551$$gVol. 12, p. 677551$$p677551$$tFrontiers in neurology$$v12$$x1664-2295$$y2021
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