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@ARTICLE{Traschtz:893927,
      author       = {Traschütz, Andreas and Reich, Selina and Adarmes, Astrid
                      D. and Anheim, Mathieu and Ashrafi, Mahmoud Reza and Baets,
                      Jonathan and Basak, A. Nazli and Bertini, Enrico and Brais,
                      Bernard and Gagnon, Cynthia and Gburek-Augustat, Janina and
                      Hanagasi, Hasmet A. and Heinzmann, Anna and Horvath, Rita
                      and de Jonghe, Peter and Kamm, Christoph and Klivenyi, Peter
                      and Klopstock, Thomas and Minnerop, Martina and Münchau,
                      Alexander and Renaud, Mathilde and Roxburgh, Richard H. and
                      Santorelli, Filippo M. and Schirinzi, Tommaso and Sival,
                      Deborah A. and Timmann, Dagmar and Vielhaber, Stefan and
                      Wallner, Michael and van de Warrenburg, Bart P. and Zanni,
                      Ginevra and Zuchner, Stephan and Klockgether, Thomas and
                      Schüle, Rebecca and Schöls, Ludger and Synofzik, Matthis},
      title        = {{T}he {ARCA} {R}egistry: {A} {C}ollaborative {G}lobal
                      {P}latform for {A}dvancing {T}rial {R}eadiness in
                      {A}utosomal {R}ecessive {C}erebellar {A}taxias},
      journal      = {Frontiers in neurology},
      volume       = {12},
      issn         = {1664-2295},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {FZJ-2021-02937},
      pages        = {677551},
      year         = {2021},
      abstract     = {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.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525)},
      pid          = {G:(DE-HGF)POF4-5251},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {34248822},
      UT           = {WOS:000671984900001},
      doi          = {10.3389/fneur.2021.677551},
      url          = {https://juser.fz-juelich.de/record/893927},
}