[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100555136":3},{"organization":4,"outcomesModule":7,"designInfo":14,"detailedDescription":17,"studyPopulation":18,"armGroups":19,"interventions":13,"overallOfficials":29,"centralContacts":41,"locations":47,"responsibleParty":309,"collaborators":311,"id":315,"slug":13,"hasResults":316,"nctId":317,"briefTitle":318,"officialTitle":319,"acronym":320,"eligibilityCriteria":321,"healthyVolunteers":316,"sex":322,"minAge":13,"maxAge":13,"enrollmentInfo":323,"targetDuration":326,"studyType":327,"phases":13,"briefSummary":328,"conditions":329,"keywords":13,"overallStatus":50,"whyStopped":13,"lastUpdateSubmitDate":331,"lastUpdatePostDateStruct":332,"startDateStruct":335,"completionDateStruct":337,"leadSponsor":339,"locationsCount":340},{"fullName":5,"class":6},"Population Health Research Institute","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":13},[9],{"measure":10,"description":11,"timeFrame":12},"Malignant Ventricular Arrhythmia","Composite of malignant syncope, ICD shock, cardiac arrest, and sudden cardiac death","5 years",null,{"allocation":13,"interventionModel":13,"interventionModelDescription":13,"primaryPurpose":13,"observationalModel":15,"timePerspective":16,"maskingInfo":13},"COHORT","PROSPECTIVE","Calcium Release Deficiency Syndrome (CRDS) is a recently discovered inherited arrhythmia syndrome that predisposes to malignant ventricular arrhythmias and sudden cardiac death (SCD). The underlying genetic culprit of CRDS is RYR2, which encodes the cardiac ryanodine receptor. In contrast to Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), which stems from pathogenic RYR2 gain-of-function, CRDS manifests secondary to RyR2 loss-of-function. Enrolment into the CRDS registry requires that the putative disease causing RYR2 variant is confirmed to result in a loss-of-function on in vitro functional analysis. Individuals possessing an RYR2 truncating variant or large copy number variant will be eligible for enrolment into a second registry arm. Patients with a suspected CRDS diagnosis whose RYR2 variant is found not to impact function will be entered into a control arm of the registry.\n\nGiven its recent discovery, our understanding of CRDS remains in its infancy. The International CRDS registry has been designed to facilitate evaluation of large numbers of CRDS patients and enable robust insights to hopefully improve management of affected patients and families.","The registry will enrol 3 separate cohorts. The primary cohort consists of CRDS cases. A CRDS case is defined as an individual that possesses a rare RYR2 variant proven to be loss-of-function on in vitro analysis. A second cohort consists of individuals that possess a rare RYR2 truncating variant or large copy number variant. The third cohort involves individuals suspected of having CRDS, however in vitro analysis revealed that their rare RYR2 variant did not impact function.",[20,23,26],{"label":21,"type":13,"description":22,"interventionNames":13},"CRDS","Possesses a rare RYR2 variant characterized to be loss-of-function based on in vitro testing consistent with a CRDS diagnosis",{"label":24,"type":13,"description":25,"interventionNames":13},"Carrier of an RYR2 truncating variant or large copy number variant","Possesses a rare RYR2 truncating variant and\u002For large copy number variant involving the RYR2 gene.",{"label":27,"type":13,"description":28,"interventionNames":13},"Carrier of a non-functional RYR2 rare variant","Possesses a rare RYR2 variant that is NOT loss-of-function based on in vitro testing and has a clinical phenotype that was considered compatible with CRDS",[30,34,38],{"name":31,"affiliation":32,"role":33},"Thomas M Roston, MD, PhD","University of British Columbia","STUDY_CHAIR",{"name":35,"affiliation":36,"role":37},"Jason D Roberts, MD MAS","McMaster University","PRINCIPAL_INVESTIGATOR",{"name":39,"affiliation":40,"role":37},"SR Wayne Chen, PhD","University of Calgary",[42],{"name":35,"role":43,"phone":44,"phoneExt":45,"email":46},"CONTACT","905-297-3479","40632","crds@phri.ca",[48,68,82,96,110,126,142,155,170,184,197,210,223,237,249,264,280,295],{"facility":49,"status":50,"city":51,"state":52,"zip":53,"country":54,"countryCode":55,"cosmosGeoPoint":56,"geoPoint":61,"contacts":62},"University of California","RECRUITING","San Francisco","California","94143","United States","US",{"type":57,"coordinates":58},"Point",[59,60],-122.41942,37.77493,{"lat":60,"lon":59},[63,66],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},"Project Manager","905-521-2100",{"name":67,"role":37,"phone":13,"phoneExt":13,"email":13},"Vasanth Vedantham, MD, PhD",{"facility":69,"status":50,"city":70,"state":71,"zip":72,"country":54,"countryCode":55,"cosmosGeoPoint":73,"geoPoint":77,"contacts":78},"Mayo Clinic","Rochester","Minnesota","55905",{"type":57,"coordinates":74},[75,76],-92.4699,44.02163,{"lat":76,"lon":75},[79,80],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":81,"role":37,"phone":13,"phoneExt":13,"email":13},"John Giudicessi, MD, PhD",{"facility":83,"status":50,"city":84,"state":85,"zip":86,"country":54,"countryCode":55,"cosmosGeoPoint":87,"geoPoint":91,"contacts":92},"Duke University","Durham","North Carolina","27710",{"type":57,"coordinates":88},[89,90],-78.89862,35.99403,{"lat":90,"lon":89},[93,94],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":95,"role":37,"phone":13,"phoneExt":13,"email":13},"Andrew Landstrom, MD, PhD",{"facility":97,"status":50,"city":98,"state":99,"zip":100,"country":54,"countryCode":55,"cosmosGeoPoint":101,"geoPoint":105,"contacts":106},"Inova Health Care Services","Fairfax","Virginia","22031",{"type":57,"coordinates":102},[103,104],-77.30637,38.84622,{"lat":104,"lon":103},[107,108],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":109,"role":37,"phone":13,"phoneExt":13,"email":13},"Robert Przybylski, MD",{"facility":111,"status":50,"city":112,"state":113,"zip":114,"country":115,"countryCode":116,"cosmosGeoPoint":117,"geoPoint":121,"contacts":122},"Garvan Institute of Medical Research","Darlinghurst","New South Wales","2010","Australia","AU",{"type":57,"coordinates":118},[119,120],151.21925,-33.87939,{"lat":120,"lon":119},[123,124],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":125,"role":37,"phone":13,"phoneExt":13,"email":13},"Jodie Ingles, PhD, MPH",{"facility":127,"status":50,"city":128,"state":129,"zip":130,"country":131,"countryCode":132,"cosmosGeoPoint":133,"geoPoint":137,"contacts":138},"Antwerp University Hospital","Edegem","Antwerp","2650","Belgium","BE",{"type":57,"coordinates":134},[135,136],4.44504,51.15662,{"lat":136,"lon":135},[139,140],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":141,"role":37,"phone":13,"phoneExt":13,"email":13},"Johan Saenen, MD, PhD",{"facility":143,"status":50,"city":144,"state":13,"zip":145,"country":131,"countryCode":132,"cosmosGeoPoint":146,"geoPoint":150,"contacts":151},"Universitair Ziekenhuis Brussel","Brussels","1090",{"type":57,"coordinates":147},[148,149],4.34878,50.85045,{"lat":149,"lon":148},[152,153],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":154,"role":37,"phone":13,"phoneExt":13,"email":13},"Luigi Pannone, MD",{"facility":40,"status":50,"city":156,"state":157,"zip":158,"country":159,"countryCode":160,"cosmosGeoPoint":161,"geoPoint":165,"contacts":166},"Calgary","Alberta","T2N 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4W7",{"type":57,"coordinates":215},[216,217],-75.69812,45.41117,{"lat":217,"lon":216},[220,221],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":222,"role":37,"phone":13,"phoneExt":13,"email":13},"Simon Hansom, MD",{"facility":224,"status":50,"city":225,"state":226,"zip":227,"country":159,"countryCode":160,"cosmosGeoPoint":228,"geoPoint":232,"contacts":233},"Montréal Heart Institute","Montreal","Quebec","H1T 1C8",{"type":57,"coordinates":229},[230,231],-73.58781,45.50884,{"lat":231,"lon":230},[234,235],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":236,"role":37,"phone":13,"phoneExt":13,"email":13},"Rafik Tadros, MD PhD",{"facility":238,"status":50,"city":239,"state":226,"zip":13,"country":159,"countryCode":160,"cosmosGeoPoint":240,"geoPoint":244,"contacts":245},"Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval","Québec",{"type":57,"coordinates":241},[242,243],-71.21454,46.81228,{"lat":243,"lon":242},[246,247],{"name":13,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":248,"role":37,"phone":13,"phoneExt":13,"email":13},"Christian Steinberg, MD",{"facility":250,"status":50,"city":251,"state":13,"zip":252,"country":253,"countryCode":254,"cosmosGeoPoint":255,"geoPoint":259,"contacts":260},"Aarhus University Hospital","Aarhus","DK-8200 N","Denmark","DK",{"type":57,"coordinates":256},[257,258],10.21076,56.15674,{"lat":258,"lon":257},[261,262],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":263,"role":37,"phone":13,"phoneExt":13,"email":13},"Henrik Jensen, MD",{"facility":265,"status":50,"city":266,"state":267,"zip":268,"country":269,"countryCode":270,"cosmosGeoPoint":271,"geoPoint":275,"contacts":276},"CHU de Bordeaux","Bordeaux","New Aquitaine","33404","France","FR",{"type":57,"coordinates":272},[273,274],-0.58046,44.84124,{"lat":274,"lon":273},[277,278],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":279,"role":37,"phone":13,"phoneExt":13,"email":13},"Frédéric Sacher, MD",{"facility":281,"status":50,"city":282,"state":13,"zip":283,"country":284,"countryCode":285,"cosmosGeoPoint":286,"geoPoint":290,"contacts":291},"Shaare Zedek Medical Center","Jerusalem","9103102","Israel","IL",{"type":57,"coordinates":287},[288,289],35.21633,31.76904,{"lat":289,"lon":288},[292,293],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":294,"role":37,"phone":13,"phoneExt":13,"email":13},"Ziv Dadon, MD",{"facility":296,"status":50,"city":199,"state":13,"zip":297,"country":298,"countryCode":299,"cosmosGeoPoint":300,"geoPoint":304,"contacts":305},"City St George's, University of London","EC1V 0HB","United Kingdom","UK",{"type":57,"coordinates":301},[302,303],-0.12574,51.50853,{"lat":303,"lon":302},[306,307],{"name":64,"role":43,"phone":65,"phoneExt":13,"email":46},{"name":308,"role":37,"phone":13,"phoneExt":13,"email":13},"Mark Specterman, MBBS, MRCP, PhD",{"type":310,"investigatorFullName":13,"investigatorTitle":13,"investigatorAffiliation":13,"oldNameTitle":13,"oldOrganization":13},"SPONSOR",[312],{"name":313,"class":314},"Canadian Institutes of Health Research (CIHR)","OTHER_GOV","100555136",false,"NCT06508164","International CRDS Registry","International Calcium Release Deficiency Syndrome Registry","CRDS Registry","CRDS Cohort\n\nInclusion Criterion:\n\n\\- Presence of a rare\\* RYR2 variant that is characterized to be loss-of-function based on in vitro testing#\n\nRYR2 Truncating and Large CNV Cohort\n\nInclusion Criterion:\n\n\\- Presence of a rare\\* RYR2 truncating variant and\u002For large copy number variant involving the RYR2 gene.\n\nCarriers of a Non-Functional RYR2 variant\n\nInclusion Criterion:\n\n\\- Presence of a rare\\* RYR2 variant that is characterized to be neither loss- nor gain-of-function based on in vitro testing#\n\n\\*rare defined as gnomAD prevalence \\\u003C 0.1%\n\n#RYR2 in vitro functional testing will be performed in the laboratory of Dr. Wayne Chen (University of Calgary)","ALL",{"count":324,"type":325},500,"ESTIMATED","26 Years","OBSERVATIONAL","Calcium Release Deficiency Syndrome (CRDS) is a newly discovered genetic arrhythmia syndrome that confers a risk of life-threatening arrhythmias secondary to RYR2 loss-of-function. The International CRDS registry has been designed to facilitate large-scale evaluation of CRDS, including its phenotypic spectrum, approaches to risk stratification, and optimal treatment strategies.",[330],"Calcium Release Deficiency Syndrome","2026-06-11",{"date":333,"type":334},"2026-06-15","ACTUAL",{"date":336,"type":334},"2024-11-21",{"date":338,"type":325},"2050-12-31",{"name":5,"class":6},18]