Publication:
The ARCA Registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias

dc.contributor.coauthorTraschuetz, Andreas
dc.contributor.coauthorReich, Selina
dc.contributor.coauthorAdarmes, Astrid D.
dc.contributor.coauthorAnheim, Mathieu
dc.contributor.coauthorAshrafi, Mahmoud Reza
dc.contributor.coauthorBaets, Jonathan
dc.contributor.coauthorBertini, Enrico
dc.contributor.coauthorBrais, Bernard
dc.contributor.coauthorGagnon, Cynthia
dc.contributor.coauthorGburek-Augustat, Janina
dc.contributor.coauthorHanagasi, Hasmet A.
dc.contributor.coauthorHeinzmann, Anna
dc.contributor.coauthorHorvath, Rita
dc.contributor.coauthorde Jonghe, Peter
dc.contributor.coauthorKamm, Christoph
dc.contributor.coauthorKlivenyi, Peter
dc.contributor.coauthorKlopstock, Thomas
dc.contributor.coauthorMinnerop, Martina
dc.contributor.coauthorMuenchau, Alexander
dc.contributor.coauthorRenaud, Mathilde
dc.contributor.coauthorRoxburgh, Richard H.
dc.contributor.coauthorSantorelli, Filippo M.
dc.contributor.coauthorSchirinzi, Tommaso
dc.contributor.coauthorSival, Deborah A.
dc.contributor.coauthorTimmann, Dagmar
dc.contributor.coauthorVielhaber, Stefan
dc.contributor.coauthorWallner, Michael
dc.contributor.coauthorvan de Warrenburg, Bart P.
dc.contributor.coauthorZanni, Ginevra
dc.contributor.coauthorZuchner, Stephan
dc.contributor.coauthorKlockgether, Thomas
dc.contributor.coauthorSchuele, Rebecca
dc.contributor.coauthorSchols, Ludger
dc.contributor.coauthorSynofzik, Matthis
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.kuprofileFaculty Member
dc.contributor.researchcenterKoç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM)
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.yokid1512
dc.date.accessioned2024-11-09T12:14:45Z
dc.date.issued2021
dc.description.abstractAutosomal 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.
dc.description.fulltextYES
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuEU
dc.description.sponsorshipEuropean Union (EU)
dc.description.sponsorshipHorizon 2020
dc.description.sponsorshipResearch and Innovation Program
dc.description.sponsorshipBMBF
dc.description.sponsorshipE-Rare-3 Network
dc.description.sponsorshipPREPARE
dc.description.sponsorshipDFG
dc.description.sponsorshipEJP-RD Network
dc.description.sponsorshipPROSPAX
dc.description.sponsorshipSolve-RD
dc.description.sponsorshipGermany Federal Ministry of Education and Research
dc.description.sponsorshipTreatHSP Network
dc.description.sponsorshipNational Institute of Neurological Diseases and Stroke
dc.description.sponsorshipEuropean Reference Network
dc.description.sponsorshipRare Neurological Diseases Project
dc.description.sponsorshipUniversity of Tubingen Medical Faculty
dc.description.sponsorshipClinician Scientist Program
dc.description.sponsorshipHungarian Brain Research Program
dc.description.sponsorshipMRA
dc.description.sponsorshipNIMAD
dc.description.sponsorshipResearch Fund-Flanders (FWO) Senior Clinical Researcher
dc.description.sponsorshipZonMW
dc.description.sponsorshipHersenstichting
dc.description.sponsorshipGossweiler Foundation
dc.description.sponsorshipuniQure
dc.description.sponsorshipRadboud University Medical Centre
dc.description.sponsorshipTKlop
dc.description.sponsorshipTKlock
dc.description.sponsorshipFriedreich's Ataxia Clinical Outcome Measures Study
dc.description.sponsorshipDuncan Foundation
dc.description.versionPublisher version
dc.description.volume12
dc.formatpdf
dc.identifier.doi10.3389/fneur.2021.677551
dc.identifier.embargoNO
dc.identifier.filenameinventorynoIR03076
dc.identifier.issn1664-2295
dc.identifier.linkhttps://doi.org/10.3389/fneur.2021.677551
dc.identifier.quartileQ2
dc.identifier.scopus2-s2.0-85109591028
dc.identifier.urihttps://hdl.handle.net/20.500.14288/1307
dc.identifier.wos671984900001
dc.keywordsAtaxia
dc.keywordsRegistry
dc.keywordsNetwork
dc.keywordsNatural history
dc.keywordsTrial readiness
dc.languageEnglish
dc.publisherFrontiers
dc.relation.grantno01GM1607
dc.relation.grantno441409627
dc.relation.grantno779257
dc.relation.grantno01GM1905
dc.relation.grantnoR01NS072248
dc.relation.grantno739510
dc.relation.grantno439-0-0
dc.relation.grantno2017-1.2.1-NKP2017_VI/4
dc.relation.grantno971846
dc.relation.grantno1805021N
dc.relation.urihttp://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9734
dc.sourceFrontiers in Neurology
dc.subjectClinical neurology
dc.subjectNeurosciences
dc.titleThe ARCA Registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias
dc.typeReview
dspace.entity.typePublication
local.contributor.authorid0000-0001-9257-3540
local.contributor.kuauthorBaşak, Ayşe Nazlı

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