[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-neutropenia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-neutropenia":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,43],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":21,"briefSummary":23,"conditions":24,"keywords":28,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100598022","early-phase-1-serial-blood-count-study-100598022",false,"NCT07066085","Serial Blood Count Study","Inclusion Criteria:\n\n* Confirmed diagnosis of severe chronic neutropenia\n* 5 years of age or older, male or female\n* Known positive ELANE mutation\n* Computer if available\n* Internet access\n* Cell phone \u002F Smart phone that can download \u002F install applications (App)\n* Adults that are comfortable obtaining the samples without medical conditions that would make collection of the sample difficult.\n\nExclusion Criteria:\n\n* Diagnosis of severe chronic neutropenia and negative results for the ELANE mutation\n* Less than 5 years of age\n* No internet access\n* No Cell phone or smart phone that cannot download \u002F install applications (App)\n* Adults that are uncomfortable obtaining the samples or have medical conditions that would make collection of the sample difficult.","ALL","5 Years",{"count":18,"type":19},20,"ESTIMATED","INTERVENTIONAL",[22],"EARLY_PHASE1","The objective of the Serial Blood Count Study is to determine the utility of home monitoring of white blood cell (WBC) and absolute neutrophil counts (ANC) to diagnose cyclic neutropenia and distinguish between cyclic and severe congenital neutropenia (SCN). A new home monitoring device called Athelas One was granted an FDA 510K Class 2 clearance for evaluation of white blood count (WBC) and absolute neutrophil count (ANC). The investigators believe this device provides a unique and extremely valuable opportunity to for diagnosis of these diseases.",[25,26,27],"Cyclic Neutropenia","Congenital Neutropenia","Neutropenia",[27,25,26,29],"Device","RECRUITING","2025-07-03",{"date":33,"type":34},"2025-07-15","ACTUAL",{"date":36,"type":34},"2024-10-17",{"date":38,"type":19},"2025-12-01",{"name":40,"class":41},"University of Washington","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":49,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":51,"targetDuration":53,"studyType":54,"phases":4,"briefSummary":55,"conditions":56,"keywords":83,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":42},"100592939","shwachman-diamond-syndrome-global-patient-survey-and-partnering-platform-100592939","NCT06999954","Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform","The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)","SDS-GPS","Inclusion Criteria:\n\nThe Program invites patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents\u002Fcaregivers.\n\n* Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1.\n* Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future).\n* Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and\u002For congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion.\n* Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.\n\nExclusion Criteria:\n\n● People who do not meet the above criteria.",{"count":52,"type":19},8000,"120 Years","OBSERVATIONAL","The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to\n\n* expand the understanding of SDS\n* improve the lives of people with SDS, and\n* accelerate the development of new therapies and cures for SDS.\n\nBy joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial impact and recruitment success.\n\nThe platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.",[57,58,59,26,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82],"Shwachman-Diamond Syndrome","SDS","IBMF","Heme Malignancy","Shwachman Syndrome","Inherited Bone Marrow Failure","Exocrine Pancreatic Insufficiency","WHIM","ELANE","SBDS Gene Mutation","EFL1 Gene Mutation","DNAJC21 Gene Mutation","SRP54 Gene Mutation","Inherited Cancer Syndrome","Inherited Cancer-Predisposing Syndrome","Neutropenia, Severe Chronic","Neutropenia Other","Neutropenia Chronic Benign","Ribosome Alteration","Ribosomopathy","Immune Deficiency","Inherited BMF Syndrome","Inherited Immunodeficiency Diseases","Cognitive Delay, Mild","Myelodysplastic Syndromes","Pancytopenia",[57,84,61,58,59,62,26,77,85,86,64,65,87,88,89,90,91,92,93],"Shwachman Diamond Syndrome","SDS-like syndrome","genetic cancer predisposition","SBDS","EFL1","SRP54","DNAJC21","severe chronic neutropenia","exocrine pancreatic insufficiency","ribosomopathy","2025-05-23",{"date":96,"type":34},"2025-05-31",{"date":98,"type":34},"2024-02-07",{"date":100,"type":19},"2088-12",{"name":102,"class":41},"Shwachman-Diamond Syndrome Alliance Inc"]