TY - JOUR
T1 - The ARCA Registry
T2 - A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
AU - Traschütz, Andreas
AU - Reich, Selina
AU - Adarmes, Astrid D.
AU - Anheim, Mathieu
AU - Ashrafi, Mahmoud Reza
AU - Baets, Jonathan
AU - Basak, A. Nazli
AU - Bertini, Enrico
AU - Brais, Bernard
AU - Gagnon, Cynthia
AU - Gburek-Augustat, Janina
AU - Hanagasi, Hasmet A.
AU - Heinzmann, Anna
AU - Horvath, Rita
AU - de Jonghe, Peter
AU - Kamm, Christoph
AU - Klivenyi, Peter
AU - Klopstock, Thomas
AU - Minnerop, Martina
AU - Münchau, Alexander
AU - Renaud, Mathilde
AU - Roxburgh, Richard H.
AU - Santorelli, Filippo M.
AU - Schirinzi, Tommaso
AU - Sival, Deborah A.
AU - Timmann, Dagmar
AU - Vielhaber, Stefan
AU - Wallner, Michael
AU - van de Warrenburg, Bart P.
AU - Zanni, Ginevra
AU - Zuchner, Stephan
AU - Klockgether, Thomas
AU - Schüle, Rebecca
AU - Schöls, Ludger
AU - Synofzik, Matthis
AU - PREPARE Consortium
AU - Ricca, Ivana
N1 - Funding Information:
This work was supported via the European Union’s Horizon 2020 research and innovation program by the BMBF under the frame of the E-Rare-3 network PREPARE (01GM1607; to MS, MA, and BW), the DFG under the frame of EJP-RD network PROSPAX (No. 441409627; MS, RS, FS, BB, CG, RH, AB, DT, and BW), and grant 779257 “Solve-RD” (to MS, RS, and BW). The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), and the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS). BW receives additional research support from ZonMW, Hersenstichting, Gossweiler Foundation, uniQure, and Radboud University Medical Centre. LS, TKlop, TKlock, EB, GZ, BW, RS, and MS are members of the European Reference Network for Rare Neurological Diseases—Project ID No 739510. AT receives funding from the University of Tübingen, Medical Faculty, for the Clinician Scientist Program Grant #439-0-0. PK receives financial support by the Hungarian Brain Research Program 2017-1.2.1-NKP-2017_VI/4. MRA received funding from NIMAD, proposal No 971846. JB is supported by a Senior Clinical Researcher mandate of the Research Fund—Flanders (FWO) under grant agreement number 1805021N and is a member of the µNEURO Research Centre of Excellence of the University of Antwerp. Several authors of this publication are members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) and of the European Reference Network for Rare Neurological Diseases (ERN-RND). RR and the University of Auckland CBR Neurogenetic Research Clinic receive funding from the Friedreich’s Ataxia Clinical Outcome Measures study and the Duncan Foundation (NZ).
Funding Information:
Funding. This work was supported via the European Union's Horizon 2020 research and innovation program by the BMBF under the frame of the E-Rare-3 network PREPARE (01GM1607; to MS, MA, and BW), the DFG under the frame of EJP-RD network PROSPAX (No. 441409627; MS, RS, FS, BB, CG, RH, AB, DT, and BW), and grant 779257 ?Solve-RD? (to MS, RS, and BW). The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), and the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS). BW receives additional research support from ZonMW, Hersenstichting, Gossweiler Foundation, uniQure, and Radboud University Medical Centre. LS, TKlop, TKlock, EB, GZ, BW, RS, and MS are members of the European Reference Network for Rare Neurological Diseases?Project ID No 739510. AT receives funding from the University of T?bingen, Medical Faculty, for the Clinician Scientist Program Grant #439-0-0. PK receives financial support by the Hungarian Brain Research Program 2017-1.2.1-NKP-2017_VI/4. MRA received funding from NIMAD, proposal No 971846. JB is supported by a Senior Clinical Researcher mandate of the Research Fund?Flanders (FWO) under grant agreement number 1805021N and is a member of the ?NEURO Research Centre of Excellence of the University of Antwerp. Several authors of this publication are members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) and of the European Reference Network for Rare Neurological Diseases (ERN-RND). RR and the University of Auckland CBR Neurogenetic Research Clinic receive funding from the Friedreich's Ataxia Clinical Outcome Measures study and the Duncan Foundation (NZ).
Publisher Copyright:
© Copyright © 2021 Traschütz, Reich, Adarmes, Anheim, Ashrafi, Baets, Basak, Bertini, Brais, Gagnon, Gburek-Augustat, Hanagasi, Heinzmann, Horvath, de Jonghe, Kamm, Klivenyi, Klopstock, Minnerop, Münchau, Renaud, Roxburgh, Santorelli, Schirinzi, Sival, Timmann, Vielhaber, Wallner, van de Warrenburg, Zanni, Zuchner, Klockgether, Schüle, Schöls, PREPARE Consortium and Synofzik.
PY - 2021/6/25
Y1 - 2021/6/25
N2 - 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.
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.
KW - ataxia
KW - natural history
KW - network
KW - registry
KW - trial readiness
UR - http://www.scopus.com/inward/record.url?scp=85109591028&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85109591028&partnerID=8YFLogxK
U2 - 10.3389/fneur.2021.677551
DO - 10.3389/fneur.2021.677551
M3 - Review article
AN - SCOPUS:85109591028
VL - 12
JO - Frontiers in Neurology
JF - Frontiers in Neurology
SN - 1664-2295
M1 - 677551
ER -