[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT06508164":3,"trial-entities:NCT06508164":330,"trial-summary:NCT06508164":334},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":21,"primary_purpose":22,"phases":23,"enrollment_info":24,"interventions":27,"primary_outcomes":28,"secondary_outcomes":33,"sex":34,"minimum_age":22,"maximum_age":22,"healthy_volunteers":15,"eligibility_criteria":35,"std_ages":39,"locations":43,"central_contacts":296,"overall_officials":300,"references":309,"see_also_links":329},"NCT06508164","16861","International CRDS Registry","International Calcium Release Deficiency Syndrome Registry","RECRUITING","2050-12-31","2026-06","2026-08-31","2024-11-21","Population Health Research Institute","OTHER",false,"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.","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.",[19],"Calcium Release Deficiency Syndrome",[],"OBSERVATIONAL",null,[],{"count":25,"type":26},500,"ESTIMATED",[],[29],{"measure":30,"description":31,"timeFrame":32},"Malignant Ventricular Arrhythmia","Composite of malignant syncope, ICD shock, cardiac arrest, and sudden cardiac death","5 years",[],"ALL",{"inclusion":36,"exclusion":37,"raw_text":38},[],[],"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)",[40,41,42],"CHILD","ADULT","OLDER_ADULT",[44,62,74,86,98,111,124,135,148,160,168,180,191,202,214,224,237,248,261,273,286],{"facility":45,"status":8,"city":46,"state":47,"zip":48,"country":49,"contacts":50,"geoPoint":59},"University of California","San Francisco","California","94143","United States",[51,56],{"name":52,"role":53,"phone":54,"email":55},"Project Manager","CONTACT","905-521-2100","crds@phri.ca",{"name":57,"role":58},"Vasanth Vedantham, MD, PhD","PRINCIPAL_INVESTIGATOR",{"lat":60,"lon":61},37.77493,-122.41942,{"facility":63,"status":8,"city":64,"state":65,"zip":66,"country":49,"contacts":67,"geoPoint":71},"Mayo Clinic","Rochester","Minnesota","55905",[68,69],{"name":52,"role":53,"phone":54,"email":55},{"name":70,"role":58},"John Giudicessi, MD, PhD",{"lat":72,"lon":73},44.02163,-92.4699,{"facility":75,"status":8,"city":76,"state":77,"zip":78,"country":49,"contacts":79,"geoPoint":83},"Duke University","Durham","North Carolina","27710",[80,81],{"name":52,"role":53,"phone":54,"email":55},{"name":82,"role":58},"Andrew Landstrom, MD, PhD",{"lat":84,"lon":85},35.99403,-78.89862,{"facility":87,"status":8,"city":88,"state":89,"zip":90,"country":49,"contacts":91,"geoPoint":95},"Inova Health Care Services","Fairfax","Virginia","22031",[92,93],{"name":52,"role":53,"phone":54,"email":55},{"name":94,"role":58},"Robert Przybylski, MD",{"lat":96,"lon":97},38.84622,-77.30637,{"facility":99,"status":8,"city":100,"state":101,"zip":102,"country":103,"contacts":104,"geoPoint":108},"Garvan Institute of Medical Research","Darlinghurst","New South Wales","2010","Australia",[105,106],{"name":52,"role":53,"phone":54,"email":55},{"name":107,"role":58},"Jodie Ingles, PhD, MPH",{"lat":109,"lon":110},-33.87939,151.21925,{"facility":112,"status":8,"city":113,"state":114,"zip":115,"country":116,"contacts":117,"geoPoint":121},"Antwerp University Hospital","Edegem","Antwerp","2650","Belgium",[118,119],{"name":52,"role":53,"phone":54,"email":55},{"name":120,"role":58},"Johan Saenen, MD, PhD",{"lat":122,"lon":123},51.15662,4.44504,{"facility":125,"status":8,"city":126,"zip":127,"country":116,"contacts":128,"geoPoint":132},"Universitair Ziekenhuis Brussel","Brussels","1090",[129,130],{"name":52,"role":53,"phone":54,"email":55},{"name":131,"role":58},"Luigi Pannone, MD",{"lat":133,"lon":134},50.85045,4.34878,{"facility":136,"status":8,"city":137,"state":138,"zip":139,"country":140,"contacts":141,"geoPoint":145},"University of Calgary","Calgary","Alberta","T2N 1N4","Canada",[142,143],{"name":52,"role":53,"phone":54,"email":55},{"name":144,"role":58},"Erkan Ilhan, MD",{"lat":146,"lon":147},51.05011,-114.08529,{"facility":149,"status":8,"city":150,"state":151,"zip":152,"country":140,"contacts":153,"geoPoint":157},"Children's & Women's Health Centre of British Columbia","Vancouver","British Columbia","V6H 3N1",[154,155],{"name":52,"role":53,"phone":54,"email":55},{"name":156,"role":58},"Shubhayan Sanatani, MD",{"lat":158,"lon":159},49.24966,-123.11934,{"facility":161,"status":8,"city":150,"state":151,"zip":162,"country":140,"contacts":163,"geoPoint":167},"The University of British Columbia","V6T 1Z3",[164,165],{"name":52,"role":53,"phone":54,"email":55},{"name":166,"role":58},"Thomas M Roston, MD",{"lat":158,"lon":159},{"facility":169,"status":8,"city":170,"state":171,"zip":172,"country":140,"contacts":173,"geoPoint":177},"Hamilton General Hospital","Hamilton","Ontario","L8L 2X2",[174,175],{"role":53,"phone":54,"email":55},{"name":176,"role":58},"Jason D Roberts, MD MAS",{"lat":178,"lon":179},43.25011,-79.84963,{"facility":181,"status":8,"city":182,"state":171,"zip":183,"country":140,"contacts":184,"geoPoint":188},"London Health Sciences Centre - University Hospital","London","N6A 5A5",[185,186],{"name":52,"role":53,"phone":54,"email":55},{"name":187,"role":58},"Habib R Khan, MD",{"lat":189,"lon":190},42.98339,-81.23304,{"facility":192,"status":8,"city":193,"state":171,"zip":194,"country":140,"contacts":195,"geoPoint":199},"Ottawa Heart Institute","Ottawa","K1Y 4W7",[196,197],{"name":52,"role":53,"phone":54,"email":55},{"name":198,"role":58},"Simon Hansom, MD",{"lat":200,"lon":201},45.41117,-75.69812,{"facility":203,"status":8,"city":204,"state":205,"zip":206,"country":140,"contacts":207,"geoPoint":211},"Montréal Heart Institute","Montreal","Quebec","H1T 1C8",[208,209],{"name":52,"role":53,"phone":54,"email":55},{"name":210,"role":58},"Rafik Tadros, MD PhD",{"lat":212,"lon":213},45.50884,-73.58781,{"facility":215,"status":8,"city":216,"state":205,"country":140,"contacts":217,"geoPoint":221},"Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval","Québec",[218,219],{"role":53,"phone":54,"email":55},{"name":220,"role":58},"Christian Steinberg, MD",{"lat":222,"lon":223},46.81228,-71.21454,{"facility":225,"status":8,"city":226,"state":227,"zip":228,"country":229,"contacts":230,"geoPoint":234},"Rigshospitalet","Copenhagen","The Capital Region of Denmark","2100","Denmark",[231,232],{"name":52,"role":53,"phone":54,"email":55},{"name":233,"role":58},"Jacob Tfelt-Hansen, MD, DMSc",{"lat":235,"lon":236},55.67594,12.56553,{"facility":238,"status":8,"city":239,"zip":240,"country":229,"contacts":241,"geoPoint":245},"Aarhus University Hospital","Aarhus","DK-8200 N",[242,243],{"name":52,"role":53,"phone":54,"email":55},{"name":244,"role":58},"Henrik Jensen, MD",{"lat":246,"lon":247},56.15674,10.21076,{"facility":249,"status":8,"city":250,"state":251,"zip":252,"country":253,"contacts":254,"geoPoint":258},"CHU de Bordeaux","Bordeaux","New Aquitaine","33404","France",[255,256],{"name":52,"role":53,"phone":54,"email":55},{"name":257,"role":58},"Frédéric Sacher, MD",{"lat":259,"lon":260},44.84124,-0.58046,{"facility":262,"status":8,"city":263,"zip":264,"country":265,"contacts":266,"geoPoint":270},"Shaare Zedek Medical Center","Jerusalem","9103102","Israel",[267,268],{"name":52,"role":53,"phone":54,"email":55},{"name":269,"role":58},"Ziv Dadon, MD",{"lat":271,"lon":272},31.76904,35.21633,{"facility":274,"status":8,"city":275,"state":276,"zip":277,"country":278,"contacts":279,"geoPoint":283},"Oxford University Hospitals","Oxford","Oxfordshire","0X3 9DU","United Kingdom",[280,281],{"name":52,"role":53,"phone":54,"email":55},{"name":282,"role":58},"Julian Ormerod, BM, Bch, FRCP",{"lat":284,"lon":285},51.75222,-1.25596,{"facility":287,"status":8,"city":182,"zip":288,"country":278,"contacts":289,"geoPoint":293},"City St George's, University of London","EC1V 0HB",[290,291],{"name":52,"role":53,"phone":54,"email":55},{"name":292,"role":58},"Mark Specterman, MBBS, MRCP, PhD",{"lat":294,"lon":295},51.50853,-0.12574,[297],{"name":176,"role":53,"phone":298,"phoneExt":299,"email":55},"905-297-3479","40632",[301,305,307],{"name":302,"affiliation":303,"role":304},"Thomas M Roston, MD, PhD","University of British Columbia","STUDY_CHAIR",{"name":176,"affiliation":306,"role":58},"McMaster University",{"name":308,"affiliation":136,"role":58},"SR Wayne Chen, PhD",[310,314,317,320,323,326],{"pmid":311,"type":312,"citation":313},"33536282","BACKGROUND","Sun B, Yao J, Ni M, Wei J, Zhong X, Guo W, Zhang L, Wang R, Belke D, Chen YX, Lieve KVV, Broendberg AK, Roston TM, Blankoff I, Kammeraad JA, von Alvensleben JC, Lazarte J, Vallmitjana A, Bohne LJ, Rose RA, Benitez R, Hove-Madsen L, Napolitano C, Hegele RA, Fill M, Sanatani S, Wilde AAM, Roberts JD, Priori SG, Jensen HK, Chen SRW. Cardiac ryanodine receptor calcium release deficiency syndrome. Sci Transl Med. 2021 Feb 3;13(579):eaba7287. doi: 10.1126\u002Fscitranslmed.aba7287.",{"pmid":315,"type":312,"citation":316},"34730774","Roston TM, Wei J, Guo W, Li Y, Zhong X, Wang R, Estillore JP, Peltenburg PJ, Noguer FRI, Till J, Eckhardt LL, Orland KM, Hamilton R, LaPage MJ, Krahn AD, Tadros R, Vinocur JM, Kallas D, Franciosi S, Roberts JD, Wilde AAM, Jensen HK, Sanatani S, Chen SRW. Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome. JAMA Cardiol. 2022 Jan 1;7(1):84-92. doi: 10.1001\u002Fjamacardio.2021.4458.",{"pmid":318,"type":312,"citation":319},"34546788","Li Y, Wei J, Guo W, Sun B, Estillore JP, Wang R, Yoruk A, Roston TM, Sanatani S, Wilde AAM, Gollob MH, Roberts JD, Tseng ZH, Jensen HK, Chen SRW. Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization. Circ Arrhythm Electrophysiol. 2021 Sep;14(9):e010013. doi: 10.1161\u002FCIRCEP.121.010013. Epub 2021 Sep 1.",{"pmid":321,"type":312,"citation":322},"34949103","Ormerod JOM, Ormondroyd E, Li Y, Taylor J, Wei J, Guo W, Wang R, Sarton CNS, McGuire K, Dreau HMP, Taylor JC, Ginks MR, Rajappan K, Chen SRW, Watkins H. Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome. Circ Genom Precis Med. 2022 Feb;15(1):e003589. doi: 10.1161\u002FCIRCGEN.121.003589. Epub 2021 Dec 24.",{"pmid":324,"type":312,"citation":325},"37325910","Ni M, Li Y, Wei J, Song Z, Wang H, Yao J, Chen YX, Belke D, Estillore JP, Wang R, Vallmitjana A, Benitez R, Hove-Madsen L, Feng W, Chen J, Roston TM, Sanatani S, Lehman A, Chen SRW. Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction. Circ Res. 2023 Jul 7;133(2):177-192. doi: 10.1161\u002FCIRCRESAHA.123.322504. Epub 2023 Jun 16.",{"pmid":327,"type":312,"citation":328},"38900490","Ni M, Dadon Z, Ormerod JOM, Saenen J, Hoeksema WF, Antiperovitch P, Tadros R, Christiansen MK, Steinberg C, Arnaud M, Tian S, Sun B, Estillore JP, Wang R, Khan HR, Roston TM, Mazzanti A, Giudicessi JR, Siontis KC, Alak A, Acosta JG, Divakara Menon SM, Tan NS, van der Werf C, Nazer B, Vivekanantham H, Pandya T, Cunningham J, Gula LJ, Wong JA, Amit G, Scheinman MM, Krahn AD, Ackerman MJ, Priori SG, Gollob MH, Healey JS, Sacher F, Nof E, Glikson M, Wilde AAM, Watkins H, Jensen HK, Postema PG, Belhassen B, Chen SRW, Roberts JD. A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome. JAMA. 2024 Jul 16;332(3):204-213. doi: 10.1001\u002Fjama.2024.8599.",[],{"nct_id":4,"conditions":331,"biomarkers":333},[332],"VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME",[],{"nct_id":4,"found":335,"summary":336,"prompt_version":346},true,{"design":337,"status":338,"heading":339,"summary":340,"follow_up":341,"word_count":342,"commitments":343,"compensation":344,"drugs_mentioned":345},"This is an observational study, meaning researchers will collect information without giving any specific treatments. It aims to enroll 500 participants.","completed","International CRDS Registry for Calcium Release Deficiency Syndrome","This study is an international registry for Calcium Release Deficiency Syndrome (CRDS), a recently discovered genetic heart condition that can cause life-threatening irregular heartbeats (arrhythmias). Researchers want to learn more about CRDS, including how it affects people, how to best assess risk, and the most effective treatments. You may be able to join if you have a specific genetic change (RYR2 variant) that is known to cause CRDS, or a certain type of RYR2 genetic change. The main goal is to track how many people with CRDS experience a serious irregular heartbeat (Malignant Ventricular Arrhythmia) over five years. The current status of this study is unclear.","Participants will be followed for five years to track the occurrence of Malignant Ventricular Arrhythmia.",106,"Not specified in the trial record.","Not stated in the trial record.",[],"v2"]