[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100259000":3},{"organization":4,"armGroups":7,"interventions":20,"overallOfficials":26,"centralContacts":31,"locations":37,"responsibleParty":58,"collaborators":10,"id":61,"slug":62,"hasResults":63,"nctId":64,"briefTitle":65,"officialTitle":66,"acronym":10,"eligibilityCriteria":67,"healthyVolunteers":63,"sex":68,"minAge":69,"maxAge":10,"enrollmentInfo":70,"targetDuration":10,"studyType":73,"phases":10,"briefSummary":74,"conditions":75,"keywords":78,"overallStatus":40,"whyStopped":10,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":92},{"fullName":5,"class":6},"University of Texas Southwestern Medical Center","OTHER",[8,12,15],{"label":9,"type":10,"description":11,"interventionNames":10},"Cohort 1-Newborns aged 1-2 days",null,"No intervention will be applied specifically for this cohort. Blood samples will be collected from this cohort by piggybacking the state-mandated newborn screening test.",{"label":13,"type":10,"description":14,"interventionNames":10},"Cohort 2-Children aged 0-18 years","No intervention will be applied specifically for this cohort. Blood samples will be collected from this cohort by piggybacking the blood draw of patient's standard of care.",{"label":16,"type":10,"description":17,"interventionNames":18},"Cohort 3-Diseased childrens and families","Blood samples will be collected from this cohort by piggybacking the blood draw of patient's standard of care. Skin biopsy will be performed on the proband children with the agreement from parents or guardians.",[19],"Procedure: Skin Biopsy",[21],{"type":22,"name":23,"description":24,"armGroupLabels":25,"otherNames":10},"PROCEDURE","Skin Biopsy","Skin biopsy will only be performed on the proband children in the cohort 3. A small piece of skin (less than 1\u002F8'') will be removed using a local anesthetic cream and a punch, which will then be used for culture of skin cells and other laboratory tests on metabolic function.",[16],[27],{"name":28,"affiliation":29,"role":30},"Ralph J DeBerardinis, MD, PhD","UT Southwestern Medical Center, Children's Medical Center at Dallas","PRINCIPAL_INVESTIGATOR",[32],{"name":33,"role":34,"phone":35,"phoneExt":10,"email":36},"Christine Quinn, MS,CGC","CONTACT","214-456-2067","christine.quinn@childrens.com",[38],{"facility":39,"status":40,"city":41,"state":42,"zip":43,"country":44,"countryCode":45,"cosmosGeoPoint":46,"geoPoint":51,"contacts":52},"Children's Medical Center at Dallas","RECRUITING","Dallas","Texas","75390","United States","US",{"type":47,"coordinates":48},"Point",[49,50],-96.80667,32.78306,{"lat":50,"lon":49},[53,57],{"name":54,"role":34,"phone":55,"phoneExt":10,"email":56},"Donnice Michel","214-456-6148","DONNICE.MICHEL@childrens.com",{"name":28,"role":30,"phone":10,"phoneExt":10,"email":10},{"type":30,"investigatorFullName":59,"investigatorTitle":60,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Ralph Deberardinis","PROFESSOR","100259000","genetic-and-metabolic-disease-in-children-100259000",false,"NCT02650622","Genetic and Metabolic Disease in Children","Genetic Regulators of Metabolism and Development in Children","Inclusion criteria of Cohort 1- Newborn:\n\n* Subjects aged 1-2 days\n* Subjects with gestational age 37-42 weeks\n* Subjects with stable clinical status (admitted to normal newborn nursery)\n\nInclusion criteria of Cohort 2 - Older children:\n\n• Subjects aged 0-18 years\n\nInclusion criteria of Cohort 3 - Diseased children:\n\nSubjects (no age limit) with ANY phenotype as below:\n\n* Confirmed metabolic or genetic diseases\n* Suspected metabolic or genetic diseases\n* Episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia, metabolic acidosis)\n* Developmental regression\n* Major congenital malformation\n* Other unexplained symptoms of potential genetic origin\n\nExclusion criteria of Cohort 1 - Newborn:\n\n* Subjects with gestational age \\\u003C37 weeks or \\>42 weeks\n* Subjects with overt signs of metabolic dysfunction, distress or genetic diseases including hypoglycemia, hyperglycemia, sepsis\u002Fshock, hypoxemia, or major congenital malformation\n* Subjects with mothers whose pregnancies were complicated by gestational diabetes, gestational hyperglycemia, gestational hypertension, preeclampsia, or any other major disorders.\n\nExclusion criteria of Cohort 2 - Older children:\n\n* Subjects with confirmed metabolic or genetic diseases\n* Subjects with suspected metabolic or genetic diseases\n* Subjects with episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia, metabolic acidosis)\n* Subjects with developmental regression\n* Subjects with major congenital malformation\n\nExclusion criteria of Cohort 3 - Diseased children No.","ALL","1 Day",{"count":71,"type":72},1550,"ESTIMATED","OBSERVATIONAL","This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics\u002FChildren's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.",[76,77],"Genetic Diseases","Metabolic Diseases",[79,80,81,82],"Metabolism","Genetics","Metabolomics","Genomics","2026-06-30",{"date":85,"type":86},"2026-07-02","ACTUAL",{"date":88,"type":86},"2015-06",{"date":90,"type":72},"2030-05",{"name":5,"class":6},1]