[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-central-hypoventilation-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-central-hypoventilation-syndrome":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,41,75],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100558680","cchs-secure-health-hub-advancing-research-efforts-cchs-share-100558680",false,"NCT06554275","CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)","CCHS SHARE: A Multi-center Longitudinal Natural History Study","Inclusion Criteria:\n\nParticipants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.\n\nExclusion Criteria:\n\nAn unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically","ALL",{"count":18,"type":19},125,"ESTIMATED","15 Years","OBSERVATIONAL","The purpose of this study is to capture longitudinal natural history data in Congenital Central Hypoventilation Syndrome (CCHS). This will include capturing standardized clinical data from standard of care assessments at several CCHS referral centers. Funding source-FDA OOPD",[24],"Congenital Central Hypoventilation Syndrome",[26,27],"Natural History","Rare Disease","RECRUITING","2025-07-11",{"date":31,"type":32},"2025-07-16","ACTUAL",{"date":34,"type":32},"2024-09-01",{"date":36,"type":19},"2028-08-31",{"name":38,"class":39},"Ann & Robert H Lurie Children's Hospital of Chicago","OTHER",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":16,"minAge":48,"maxAge":49,"enrollmentInfo":50,"targetDuration":52,"studyType":21,"phases":4,"briefSummary":53,"conditions":54,"keywords":60,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":74},"100329395","neurocognition-in-congenital-central-hypoventilation-syndrome-cchs-100329395","NCT03568669","Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)","Neurocognitive Outcome as a Metric for Evaluating Therapeutic Intervention and Treatment Mechanisms in Congenital Central Hypoventilation Syndrome (CCHS): A Multi-Site Study Using The NIH Toolbox","Inclusion Criteria:\n\n* PHOX2B mutation-confirmed CCHS diagnosis\n* Speaks and reads English as a primary language\n\nExclusion Criteria:\n\n* Unsuspected or unconfirmed CCHS\n* Does not speak or read English as a primary language","3 Years","85 Years",{"count":51,"type":19},1000,"20 Years","Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic and respiratory regulation that frequently alters oxygen delivery to the brain. In CCHS, neurocognitive function has been of great concern because of the potential for repeated hypoxemia and hypercarbia in activities of daily living in addition to hypoventilation with related hypoxemia and hypercarbia during sleep. As the world's leading referral center for CCHS, the Center for Autonomic Medicine in Pediatrics (CAMP) is engaged in ongoing research to identify factors that impact neurocognitive performance in patients with CCHS in order to optimize clinical management and improve long term neurocognitive outcomes.\n\nThe purpose of this IRB-approved research study is to implement the NIH Toolbox as a standard measurement of cognitive health in patients with CCHS. Further, the study aims to determine how intrinsic and extrinsic disease factors such as age at diagnosis, PHOX2B mutation type and genotype, and nature of past and present artificial respiratory intervention affect the NIH Toolbox Cognitive scores of individuals with CCHS. Eligible participants will complete a 45-minute NIH Toolbox assessment and parents (or adult participants) will complete an associated, 15-minute Research Electronic Data Capture (REDCap) questionnaire.",[24,55,56,57,58,59],"Congenital Central Hypoventilation","CCHS","CCHS With Hirschsprung Disease","CCHS With Neural Crest Tumor","CCHS With Neuroblastoma",[61,62,24,56,63,64],"NIH Toolbox","Toolbox","Autonomic Nervous System Dysregulation","PHOX2B","2024-08-06",{"date":67,"type":32},"2024-08-09",{"date":69,"type":32},"2016-01",{"date":71,"type":19},"2035-12",{"name":73,"class":39},"Debra Weese-Mayer",4,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":82,"targetDuration":52,"studyType":21,"phases":4,"briefSummary":83,"conditions":84,"keywords":85,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":96,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":40},"100292528","international-congenital-central-hypoventilation-syndrome-cchs-registry-and-cchs-share-100292528","NCT03088020","International Congenital Central Hypoventilation Syndrome (CCHS) Registry and CCHS SHARE","International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry and CCHS Secure Health-hub Advancing Research Efforts","Inclusion Criteria:\n\n* Individuals with PHOX2B mutation-confirmed CCHS.\n\nExclusion Criteria:\n\n* Individuals without PHOX2B mutation-confirmed CCHS.",{"count":51,"type":19},"The Center for Autonomic Medicine in Pediatrics (CAMP), in collaboration with leading CCHS clinicians, scientists, and patient advocacy groups around the world has built the first International CCHS (Congenital Central Hypoventilation Syndrome REDCap (Research Electronic Data Capture) Registry. This registry is an international collaboration to capture CCHS natural history data with CCHS patients and their physicians recruited from around the world. This registry is part of a CCHS natural history study that includes the CCHS Secure Health-hub Advancing Research Efforts (CCHS-SHARE), a natural history data platform shared with the broader CCHS research and patient community to house extensive longitudinal, de-identified data. Inclusion of registry data in CCHS-SHARE is optional.\n\nThe purpose of this IRB-approved research study is to gain a better understanding of the natural history of CCHS, including the various clinical manifestations of CCHS with advancing age, and as related to each patient's specific PHOX2B mutation. With a better understanding of CCHS natural history, we will be able to better anticipate healthcare needs and to provide more accurate guidelines to healthcare providers world-wide in caring for patients with CCHS.\n\nThe study aims to obtain detailed phenotypic information (information about health and well-being) on patients with CCHS and their families. Participation would require filling out a confidential survey that asks questions regarding phenotype and past medical history. Involvement in the project is completely voluntary and there is no compensation for taking part. However, this project will help us learn more about this disease, with the goal of advancing treatment.",[24],[56,64,86,87,88,89,90,91,92,93,94,95],"Paired-like Homeobox gene PHOX2B","autonomic nervous system dysregulation","control of breathing","Hirschsprung disease","neural crest tumors","neuroblastoma","ganglioneuroma","ganglioneuroblastoma","artificial ventilation","diaphragm pacing",{"date":67,"type":32},{"date":98,"type":32},"2013-06-24",{"date":100,"type":19},"2032-12-31",{"name":73,"class":39}]