[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100577196":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":19,"centralContacts":24,"locations":34,"responsibleParty":52,"collaborators":10,"id":54,"slug":55,"hasResults":56,"nctId":57,"briefTitle":58,"officialTitle":58,"acronym":10,"eligibilityCriteria":59,"healthyVolunteers":56,"sex":60,"minAge":61,"maxAge":62,"enrollmentInfo":63,"targetDuration":10,"studyType":66,"phases":10,"briefSummary":67,"conditions":68,"keywords":84,"overallStatus":36,"whyStopped":10,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":99},{"fullName":5,"class":6},"Duke University","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Rare GSD (Glycogen Storage Disease)",null,"individuals with confirmed diagnosis of rare glycogen storage disease including but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease",[13],"Other: No intervention",[15],{"type":6,"name":16,"description":17,"armGroupLabels":18,"otherNames":10},"No intervention","Observational. Natural history study.",[9],[20],{"name":21,"affiliation":22,"role":23},"Priya Kishnani, M.D.","Duke","PRINCIPAL_INVESTIGATOR",[25,30],{"name":26,"role":27,"phone":28,"phoneExt":10,"email":29},"Rebecca Koch, PhD, RDN","CONTACT","919-681-8823","rebecca.koch@duke.edu",{"name":31,"role":27,"phone":32,"phoneExt":10,"email":33},"Nisha Dalal, MS, CCC-SLP","919-668-3107","nisha.dalal@duke.edu",[35],{"facility":5,"status":36,"city":37,"state":38,"zip":39,"country":40,"countryCode":41,"cosmosGeoPoint":42,"geoPoint":47,"contacts":48},"RECRUITING","Durham","North Carolina","27710","United States","US",{"type":43,"coordinates":44},"Point",[45,46],-78.89862,35.99403,{"lat":46,"lon":45},[49,51],{"name":50,"role":27,"phone":32,"phoneExt":10,"email":33},"Nisha Dalal, MS CCC-SLP",{"name":21,"role":23,"phone":10,"phoneExt":10,"email":10},{"type":53,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100577196","rare-glycogen-storage-diseases-natural-history-study-100577196",false,"NCT06795152","Rare Glycogen Storage Diseases Natural History Study","Inclusion Criteria:\n\n* Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease\n\n  * Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases)\n  * One variant in the gene associated with the specific GSD type (for autosomal dominant or X-linked diseases)\n  * Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue\n  * One variant in causative gene with evidence of disease, per a clinician\n  * Histology as confirmed by a clinician\n* Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative)\n* Able to provide consent for release of medical records\n* Pregnant women with a diagnosis of a rare GSD will be included\n\nExclusion Criteria:\n\n* Unable to provide informed consent for participation for one's self or by legally authorized representative\u002Flegal guardian\u002Fparent","ALL","0 Years","90 Years",{"count":64,"type":65},200,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.",[69,70,71,72,73,74,75,76,77,78,79,80,81,82,83],"Glycogen Storage Disease","GSD Type 0A","GSD Type 0B","GSD VII","Tarui Disease","GSD X","GSD XII","GSD XIII","GSD XV","PGBM2","PRKAG2","Danon Disease","Polyglucosan Body Myopathy Type 1","Polyglucosan Body Myopathy Type 2","RBCK1 Deficiency",[85,86,87,82,78,79,88,81,89],"glycogen storage disease","GSD","Tarui disease","Danon disease","RBCK1","2026-01-05",{"date":92,"type":93},"2026-01-07","ACTUAL",{"date":95,"type":93},"2024-12-23",{"date":97,"type":65},"2034-12",{"name":5,"class":6},1]