[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100086935":3},{"organization":4,"armGroups":7,"interventions":7,"overallOfficials":8,"centralContacts":13,"locations":23,"responsibleParty":42,"collaborators":45,"id":49,"slug":50,"hasResults":51,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":7,"eligibilityCriteria":55,"healthyVolunteers":51,"sex":56,"minAge":57,"maxAge":58,"enrollmentInfo":59,"targetDuration":7,"studyType":62,"phases":7,"briefSummary":63,"conditions":64,"keywords":68,"overallStatus":25,"whyStopped":7,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":81},{"fullName":5,"class":6},"Boston Children's Hospital","OTHER",null,[9],{"name":10,"affiliation":11,"role":12},"Louis M Kunkel, PhD","Boston Children's Hospital\u002FHarvard Medical School","PRINCIPAL_INVESTIGATOR",[14,19],{"name":15,"role":16,"phone":17,"phoneExt":7,"email":18},"Elicia A Estrella, MS, LCGC","CONTACT","617-919-4552","elicia.estrella@childrens.harvard.edu",{"name":20,"role":16,"phone":21,"phoneExt":7,"email":22},"Casie Genetti, MS,LCGC","617-919-2169","Casie.Genetti@childrens.harvard.edu",[24],{"facility":5,"status":25,"city":26,"state":27,"zip":28,"country":29,"countryCode":30,"cosmosGeoPoint":31,"geoPoint":36,"contacts":37},"RECRUITING","Boston","Massachusetts","02115","United States","US",{"type":32,"coordinates":33},"Point",[34,35],-71.05977,42.35843,{"lat":35,"lon":34},[38,39,41],{"name":15,"role":16,"phone":17,"phoneExt":7,"email":18},{"name":40,"role":16,"phone":21,"phoneExt":7,"email":22},"Casie Genetti, MS, LCGC",{"name":10,"role":12,"phone":7,"phoneExt":7,"email":7},{"type":12,"investigatorFullName":43,"investigatorTitle":44,"investigatorAffiliation":5,"oldNameTitle":7,"oldOrganization":7},"Louis Kunkel","Professor of Genetics and Pediatrics, Harvard Medical School",[46],{"name":47,"class":48},"National Institute of Neurological Disorders and Stroke (NINDS)","NIH","100086935","molecular-analysis-of-patients-with-neuromuscular-disease-100086935",false,"NCT00390104","Molecular Analysis of Patients With Neuromuscular Disease","Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members","The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.\n\nInclusion criteria:\n\n1. having a clinical and\u002For pathological diagnosis of a muscular dystrophy\n2. being the first degree relative of someone with such a diagnosis\n3. having had a muscle biopsy if diagnosed with a neuromuscular disease\n4. willingness to provide a skin biopsy for research only\n\nExclusion Criteria:\n\n1. not having a neuromuscular diagnosis in you or a family member\n2. not wishing to participate\n3. being incapable of giving consent and not having a legal guardian willing or able to do so","ALL","1 Week","100 Years",{"count":60,"type":61},1000,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis\u002Fprognosis of these disorders which will lead to potential therapies.",[65,66,67],"Neuromuscular; Disorder, Hereditary","Duchenne\u002FBecker Muscular Dystrophy","Limb-girdle Muscular Dystrophy",[69,70,71],"Neuromuscular Disease","Muscle weakness","Muscle atrophy","2023-04-20",{"date":74,"type":75},"2023-04-24","ACTUAL",{"date":77,"type":75},"2002-01",{"date":79,"type":61},"2027-12-31",{"name":5,"class":6},1]