RT Generic
T1 The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
A1 Traschuetz, Andreas
A1 Reich, Selina
A1 Adarmes, Astrid D.
A1 Anheim, Mathieu
A1 Ashrafi, Mahmoud Reza
A1 Baets, Jonathan
A1 Basak, A. Nazli
A1 Bertini, Enrico
A1 Brais, Bernard
A1 Gagnon, Cynthia
A1 Gburek-Augustat, Janina
A1 Hanagasi, Hasmet A.
A1 Heinzmann, Anna
A1 Horvath, Rita
A1 de Jonghe, Peter
A1 Kamm, Christoph
A1 Klivenyi, Peter
A1 Klopstock, Thomas
A1 Minnerop, Martina
A1 Muenchau, Alexander
A1 Renaud, Mathilde
A1 Roxburgh, Richard H.
A1 Santorelli, Filippo M.
A1 Schirinzi, Tommaso
A1 Sival, Deborah A.
A1 Timmann, Dagmar
A1 Vielhaber, Stefan
A1 Wallner, Michael
A1 van de Warrenburg, Bart P.
A1 Zanni, Ginevra
A1 Zuchner, Stephan
A1 Klockgether, Thomas
A1 Schuele, Rebecca
A1 Schols, Ludger
A1 Synofzik, Matthis
A1 PREPARE Consortium, 
K1 ataxia
K1 registry
K1 network
K1 natural history
K1 trial readiness
K1 Severity
AB 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.
PB Frontiers media sa
SN 1664-2295
YR 2021
FD 2021-06-25
LK https://hdl.handle.net/10668/27385
UL https://hdl.handle.net/10668/27385
LA en
DS RISalud
RD Apr 8, 2025