[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inherited-cancer-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inherited-cancer-syndrome":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,50],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":32,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100298073","genetic-analysis-of-pheochromocytomas-paragangliomas-and-associated-conditions-100298073",false,"NCT03160274","Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions","Inclusion Criteria:\n\n* diagnosis of pheochromocytoma and or paraganglioma\n* family member with diagnosis of pheochromocytoma and or paraganglioma\n* diagnosis of a pheochromocytoma- and or paraganglioma-associated condition\n* family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition\n\nExclusion Criteria:\n\n* unconfirmed diagnosis of pheochromocytoma and\u002For paraganglioma or associated condition",true,"ALL",{"count":18,"type":19},2000,"ESTIMATED","30 Years","OBSERVATIONAL","Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma\u002Fparaganglioma of various genetic origins.",[24,25,26,27,28,29,30,31],"Pheochromocytoma","Paraganglioma","Inherited Cancer Syndrome","Associated Conditions","Kidney Neoplasms","Bone Cancer","Thyroid Neoplasms","Other Cancer",[33,34,35,36],"tumor suppressor gene","oncogene","mutation","susceptibility gene","RECRUITING","2025-10-13",{"date":40,"type":41},"2025-10-15","ACTUAL",{"date":43,"type":41},"2005-10-19",{"date":45,"type":19},"2030-12-31",{"name":47,"class":48},"The University of Texas Health Science Center at San Antonio","OTHER",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":56,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":58,"targetDuration":60,"studyType":21,"phases":4,"briefSummary":61,"conditions":62,"keywords":89,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":100,"lastUpdatePostDateStruct":101,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":49},"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":59,"type":19},8000,"120 Years","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.",[63,64,65,66,67,68,69,70,71,72,73,74,75,76,26,77,78,79,80,81,82,83,84,85,86,87,88],"Shwachman-Diamond Syndrome","SDS","IBMF","Congenital Neutropenia","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-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",[63,90,68,64,65,69,66,83,91,92,71,72,93,94,95,96,97,98,99],"Shwachman Diamond Syndrome","SDS-like syndrome","genetic cancer predisposition","SBDS","EFL1","SRP54","DNAJC21","severe chronic neutropenia","exocrine pancreatic insufficiency","ribosomopathy","2025-05-23",{"date":102,"type":41},"2025-05-31",{"date":104,"type":41},"2024-02-07",{"date":106,"type":19},"2088-12",{"name":108,"class":48},"Shwachman-Diamond Syndrome Alliance Inc"]