[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"hypertonia-muscle\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:hypertonia-muscle":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,57],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":32,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":45,"lastUpdatePostDateStruct":46,"startDateStruct":49,"completionDateStruct":51,"leadSponsor":53,"locationsCount":56},"100479797","self-supporting-nasopharyngeal-airway-ssnpa-treating-upper-airway-obstruction-in-hypotonia-100479797",false,"NCT05527652","Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia","Inclusion Criteria:\n\n* Children with Hypotonic Upper Airway Obstruction (HUAO): This includes those who newly diagnosed with obstructive sleep apnea (OSA). These children will undergo overnight polysomnography to determine the presence of OSA (apnea-hypopnea index \\[AHI\\]\\>10 or AHI\\>5 with nocturnal hypoxemia defined as oxygen saturation by pulse oximetry \\[SpO2\\] nadir \\\u003C=75%).\n* All subjects require the presence of at least one symptom of OSA (such as snoring 3 or more nights per week, daytime sleepiness, or hyperactive\u002Finattentive behaviors)\n* Post adenotonsillectomy or those with contraindications to tonsillectomy.\n* Tonsil size 2+ or smaller.\n* Parent\u002Fcaregivers willing and able to provide informed consent and child willing and able to provide assent, where appropriate.\n\nExclusion Criteria:\n\n* AHI ≤10 on polysomnogram (PSG) without hypoxemia or AHI\\\u003C5 with hypoxemia.\n* Any medical reason why Self-Supporting Nasopharyngeal Airway (ssNPA) therapy may not be suitable\n* Active Coronavirus (COVID) 19 infections\n* End-tidal carbon dioxide (ETCO2) or Transcutaneous carbon dioxide (TCO2) values \\>60 mmHg for \\>10% of sleep time on PSG\n* Psychiatric, medical, or social factors likely to invalidate assessments, make adherence with ssNPA highly unlikely or make local follow-up at 8 weeks unfeasible. Some psychiatric conditions may be provoked or exacerbated by OSA, and those most commonly implicated - Attention Deficit\u002FHyperactivity Disorder, Conduct Disorder, and Oppositional Defiant Disorder - will not be exclusions. However, more pervasive conditions such as severe autism will be excluded.\n* Presence of supraglottic airway collapse or more distal airway stenosis or collapse (for example glottic, subglottic stenosis, or concern for distal airway stenosis or malacia)\n* Moderate\u002Fsevere tracheobronchomalacia\n* Need for anticoagulative therapy\n* Bleeding disorder\n* Restrictive thoracic disorders","ALL","3 Years","21 Years",{"count":19,"type":20},40,"ESTIMATED","INTERVENTIONAL",[23],"NA","The researchers are investigating if the Self-Supporting Nasopharyngeal Airway (ssNPA) device can be used in the treatment of obstructive sleep apnea in children with Hypotonic Upper Airway Obstruction (HUAO).",[26,27,28,29,30,31],"Obstructive Sleep Apnea","Hypertonia, Muscle","Nasal Airway Obstruction","Tolerance","Trisomy 21","Down Syndrome",[33,34,27,35,36,37,38,39,40,41,42,43],"Sleep Apnea Syndromes","Sleep Apnea, Obstructive","Apnea","Respiration Disorders","Respiratory Tract Diseases","Sleep Disorders, Intrinsic","Dyssomnias","Sleep Wake Disorders","Nervous System Diseases","Neuromuscular Manifestations","Neurologic Manifestations","RECRUITING","2026-03-10",{"date":47,"type":48},"2026-03-12","ACTUAL",{"date":50,"type":48},"2022-11-16",{"date":52,"type":20},"2026-12",{"name":54,"class":55},"University of Michigan","OTHER",1,{"id":58,"slug":59,"hasResults":11,"nctId":60,"briefTitle":61,"officialTitle":62,"acronym":4,"eligibilityCriteria":63,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":64,"targetDuration":66,"studyType":67,"phases":4,"briefSummary":68,"conditions":69,"keywords":76,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":104,"completionDateStruct":106,"leadSponsor":108,"locationsCount":56},"100323523","longitudinal-study-of-neurogenetic-disorders-100323523","NCT03492060","Longitudinal Study of Neurogenetic Disorders","Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies","Inclusion Criteria:\n\n* Individuals must have had whole genome\u002Fexome sequencing and have a confirmed variant in any gene.\n\nExclusion Criteria:\n\n* Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.",{"count":65,"type":20},1000,"5 Years","OBSERVATIONAL","The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.",[70,71,72,73,74,27,75],"Neurodevelopmental Disorders","Intellectual Disability","Developmental Delay","Autism Spectrum Disorder","Seizures","Hypotonia",[77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100],"Gene Variant","HNRNPA1","HNRNPA2","HNRNPB1","HNRNPC1","HNRNPC2","HNRNPD","HNRNPE1","HNRNPE2","HNRNPE3","HNRNPE4","HNRNPG","HNRNPH1","HNRNPH2","HNRNPI","HNRNPK","HNRNPL","HNRNPM","HNRNPP","HNRNPQ1","HNRNPQ2","HNRNPQ3","HNRNPR","HNRNPU","2025-10-24",{"date":103,"type":48},"2025-10-27",{"date":105,"type":48},"2018-06-13",{"date":107,"type":20},"2030-12",{"name":109,"class":55},"Columbia University"]