[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100384966":3},{"organization":4,"armGroups":7,"interventions":13,"overallOfficials":18,"centralContacts":22,"locations":31,"responsibleParty":50,"collaborators":52,"id":63,"slug":64,"hasResults":65,"nctId":66,"briefTitle":67,"officialTitle":68,"acronym":10,"eligibilityCriteria":69,"healthyVolunteers":65,"sex":70,"minAge":10,"maxAge":10,"enrollmentInfo":71,"targetDuration":10,"studyType":74,"phases":10,"briefSummary":75,"conditions":76,"keywords":79,"overallStatus":34,"whyStopped":10,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":100},{"fullName":5,"class":6},"Newcastle University","OTHER",[8],{"label":9,"type":10,"description":10,"interventionNames":11},"Participants with Spinal Muscular Atrophy",null,[12],"Other: Patient Registry",[14],{"type":6,"name":15,"description":16,"armGroupLabels":17,"otherNames":10},"Patient Registry","Participants who have volunteered to participate will complete various questionnaires relating to their conditions.",[9],[19],{"name":20,"affiliation":5,"role":21},"Chiara Marini-Bettolo, MD, PhD","PRINCIPAL_INVESTIGATOR",[23,28],{"name":24,"role":25,"phone":26,"phoneExt":10,"email":27},"Patient Registry manager and curator","CONTACT","0191 2418640","smaregistry@newcastle.ac.uk",{"name":29,"role":25,"phone":10,"phoneExt":10,"email":30},"Chiara Patient Registry Team","registries@newcastle.ac.uk",[32],{"facility":33,"status":34,"city":35,"state":10,"zip":36,"country":37,"countryCode":38,"cosmosGeoPoint":39,"geoPoint":44,"contacts":45},"John Walton Muscular Dystrophy Research Centre","RECRUITING","Newcastle upon Tyne","NE1 3BZ","United Kingdom","UK",{"type":40,"coordinates":41},"Point",[42,43],-1.61396,54.97328,{"lat":43,"lon":42},[46,47,49],{"name":24,"role":25,"phone":26,"phoneExt":10,"email":27},{"name":48,"role":25,"phone":10,"phoneExt":10,"email":30},"Patient Registry Team",{"name":20,"role":21,"phone":10,"phoneExt":10,"email":10},{"type":51,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[53,56,58,61],{"name":54,"class":55},"Biogen","INDUSTRY",{"name":57,"class":55},"Roche Pharma AG",{"name":59,"class":60},"Adult SMA REACH","UNKNOWN",{"name":62,"class":60},"SMA REACH UK","100384966","uk-sma-patient-registry-100384966",false,"NCT04292574","UK SMA Patient Registry","Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland","Inclusion Criteria:\n\n* All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results\n\nExclusion Criteria:\n\n* There are no exclusion criteria for the registry","ALL",{"count":72,"type":73},800,"ESTIMATED","OBSERVATIONAL","Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults. It is an autosomal recessive disorder and is therefore caused by inheritance of a mutated gene from each parent. All forms of SMA have an estimated combined incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1\u002F40 to 1\u002F60.\n\nThe patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland. Entry is via self-registration over a secure internet connection (https:\u002F\u002Fwww.sma-registry.org.uk\u002F). Online, patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate. Following online consent, subjects will be entered into the registry. This is an on-going database and all participants are invited to update their information on a biannual basis.",[77,78],"Spinal Muscular Atrophy","SMA",[77,78,80,81,82,83,84,85,86,87,88,89,90],"Neuromuscular Diseases","Motor Neuron Disease","Bulbo-Spinal Atrophy, X-Linked","Kennedy Disease","Spinal Muscular Atrophy with Respiratory Distress 1","Distal Spinal Muscular Atrophy","SMA type 1","SMA type 2","SMA type 3","SMA type 4","5q SMA","2024-07-22",{"date":93,"type":94},"2024-07-23","ACTUAL",{"date":96,"type":94},"2008-07-13",{"date":98,"type":73},"2025-05-31",{"name":5,"class":6},1]