[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100074759":3},{"organization":4,"armGroups":7,"interventions":8,"overallOfficials":49,"centralContacts":55,"locations":63,"responsibleParty":97,"collaborators":99,"id":103,"slug":104,"hasResults":105,"nctId":106,"briefTitle":107,"officialTitle":108,"acronym":109,"eligibilityCriteria":110,"healthyVolunteers":111,"sex":112,"minAge":7,"maxAge":7,"enrollmentInfo":113,"targetDuration":7,"studyType":116,"phases":7,"briefSummary":117,"conditions":118,"keywords":122,"overallStatus":66,"whyStopped":7,"lastUpdateSubmitDate":127,"lastUpdatePostDateStruct":128,"startDateStruct":131,"completionDateStruct":133,"leadSponsor":135,"locationsCount":136},{"fullName":5,"class":6},"The University of Texas Health Science Center at San Antonio","OTHER",null,[9,13,16,19,22,25,28,31,34,37,40,43,46],{"type":10,"name":11,"description":12,"armGroupLabels":7,"otherNames":7},"PROCEDURE","Determination of growth hormone status","Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test",{"type":10,"name":14,"description":15,"armGroupLabels":7,"otherNames":7},"Measurement of growth, thyroid and sex hormone levels","Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered",{"type":10,"name":17,"description":18,"armGroupLabels":7,"otherNames":7},"Behavior and neuropsychometric evaluations","evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history",{"type":10,"name":20,"description":21,"armGroupLabels":7,"otherNames":7},"Audiological and ear, nose and throat examination","neurotological exam, behavioral audiometry, immittance audiometry, assessment of the function of the inner ear using otoacoustic emissions, Auditory brain responses",{"type":10,"name":23,"description":24,"armGroupLabels":7,"otherNames":7},"Magnetic resonance imaging of the brain","MRI of the brain - standard clinical procedure",{"type":10,"name":26,"description":27,"armGroupLabels":7,"otherNames":7},"Dysmorphology evaluation","Genetic evaluation with picture and measurements, physical exam",{"type":10,"name":29,"description":30,"armGroupLabels":7,"otherNames":7},"Neurology examination","physical examination including observation of balance, coordination and reflexes.",{"type":10,"name":32,"description":33,"armGroupLabels":7,"otherNames":7},"Dental evaluation","Visual detal inspection with panorex X-ray of the entire mouth",{"type":10,"name":35,"description":36,"armGroupLabels":7,"otherNames":7},"Speech pathology evaluation","Standardized speech \\& language tests and naturalistic assessment procedures.",{"type":10,"name":38,"description":39,"armGroupLabels":7,"otherNames":7},"Psychiatric evaluation","Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained",{"type":10,"name":41,"description":42,"armGroupLabels":7,"otherNames":7},"Orthopedic evaluation","Physical exam by orthopedic surgeon and a dysplasia series of radiographs including AP and lateral radiographics of the feet, APs of the knees, pelvis, thoracic lumbar spine and chest, laterals of thoracic lumbar and cervical spine, lateral of the skull, AP and lateral of the forearm, bone age evaluation with radiograph of left hand",{"type":10,"name":44,"description":45,"armGroupLabels":7,"otherNames":7},"Ophthalmologic evaluation","exam will determine visual acuity using one of the following: Snellen chart, Allen acuity, target acuity, optokinetic nystagmus (OKN), or Teller acuity depending on study participants ability level. Motility\u002Falignment will also be determined using cover\u002Funcover test. Pupils examined using slit lamp. Dilated fundus exam and cycloplegic refraction which will require dilating drops in both eyes. Cyclogen 1% and NeuSynephrine 2.5% are using. In children less than 6 months old, less potent mydriatrics and cycloplegics are used Cyclogel 0.5% or Tropicamide 1%. Intraocular pressure will be measured in adults and cooperative teens using applanation tonometry. A topical anesthetic will be used to perform this measurement.",{"type":10,"name":47,"description":48,"armGroupLabels":7,"otherNames":7},"Gastrointestinal evaluation","physical exam and medical history by board certified gastroenterologist.",[50,53],{"name":51,"affiliation":5,"role":52},"Jannine D. Cody, Ph.D.","PRINCIPAL_INVESTIGATOR",{"name":54,"affiliation":5,"role":52},"Jonathan Gelfond, M.D., Ph.D.",[56,60],{"name":51,"role":57,"phone":58,"phoneExt":7,"email":59},"CONTACT","210-567-9220","cody@uthscsa.edu",{"name":54,"role":57,"phone":61,"phoneExt":7,"email":62},"210-567-0851","gelfondjal@uthscsa.edu",[64,83],{"facility":65,"status":66,"city":67,"state":68,"zip":69,"country":70,"countryCode":71,"cosmosGeoPoint":72,"geoPoint":77,"contacts":78},"University Health Systems Hospital","RECRUITING","San Antonio","Texas","78229","United States","US",{"type":73,"coordinates":74},"Point",[75,76],-98.49363,29.42412,{"lat":76,"lon":75},[79,81],{"name":80,"role":57,"phone":58,"phoneExt":7,"email":59},"Janinne Cody, PhD",{"name":82,"role":52,"phone":7,"phoneExt":7,"email":7},"Kameel M. Karkar, M.D.",{"facility":84,"status":66,"city":67,"state":68,"zip":69,"country":70,"countryCode":71,"cosmosGeoPoint":85,"geoPoint":87,"contacts":88},"University of Texas Health Science Center at San Antonio",{"type":73,"coordinates":86},[75,76],{"lat":76,"lon":75},[89,91,92,93,95],{"name":90,"role":57,"phone":58,"phoneExt":7,"email":59},"Jannine D Cody, Ph.D.",{"name":54,"role":57,"phone":61,"phoneExt":7,"email":62},{"name":51,"role":52,"phone":7,"phoneExt":7,"email":7},{"name":94,"role":52,"phone":7,"phoneExt":7,"email":7},"Jonathan A. L. Gelfond, M.D., Ph.D.",{"name":82,"role":96,"phone":7,"phoneExt":7,"email":7},"SUB_INVESTIGATOR",{"type":98,"investigatorFullName":7,"investigatorTitle":7,"investigatorAffiliation":7,"oldNameTitle":7,"oldOrganization":7},"SPONSOR",[100],{"name":101,"class":102},"National Center for Research Resources (NCRR)","NIH","100074759","chromosome-18-clinical-research-center-100074759",false,"NCT00227253","Chromosome 18 Clinical Research Center","The Chromosome 18 Clinical Research Center","Chromosome18","Inclusion Criteria:\n\n* Must have a confirmed diagnosis of Chromosome 18 or be the parent\u002Fguardian of a child with Chromosome 18\n* Subject must be at least one year of age to participate in the clinical examination aspect of the study (due to issues of venous access and blood volume required to complete studies)\n* General health status: good\n\nExclusion Criteria:\n\n* Pregnant women\n* Dead fetuses\n* Prisoners\n* Non-viable neonates or neonates of uncertain viability",true,"ALL",{"count":114,"type":115},4000,"ESTIMATED","OBSERVATIONAL","Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facilitate groundbreaking clinical and basic research relating to the syndromes of chromosome 18; and to provide treatments to help these individuals overcome the effects of their chromosome abnormality.",[119,120,121],"Chromosome Aberrations","Growth Hormone Deficiency","Hypomyelination",[123,124,125,126],"Phenotype","Growth","Genotype","Chromosome 18","2026-01-02",{"date":129,"type":130},"2026-01-06","ACTUAL",{"date":132,"type":7},"1993-09",{"date":134,"type":115},"2040-12",{"name":5,"class":6},2]