[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"unaffected-mutation-carriers-healthy-participants-with-a-known-bmpr2-gene-mutation-and-normal-pulmonary-pressure-and-rv-function-on-echo\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:unaffected-mutation-carriers-healthy-participants-with-a-known-bmpr2-gene-mutation-and-normal-pulmonary-pressure-and-rv-function-on-echo":42},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":12,"acronym":13,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":28,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":5},"100484183",false,"NCT05584722","Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals","RARE-PAH","Inclusion Criteria:\n\n* Children and Adults, aged 15 - 80\n* Diagnosed with idiopathic or heritable, pulmonary arterial hypertension (PAH), defined according to standard criteria\n* Unaffected Mutation Carriers: Healthy participants with a known BMPR2 gene mutation and normal pulmonary pressure and RV function on echo\n* Healthy Controls: Healthy individuals without cardiopulmonary disease.\n* WHO functional class I-III\n* Stable PAH-specific medication regimen for three months prior to enrollment. Subjects with only a single diuretic adjustment in the prior three months will be included. Adjustments in IV prostacyclin for side effect management are allowed.\n\nExclusion Criteria:\n\n* Prohibited from normal activity due to wheelchair bound status, bed bound status, reliance on a cane\u002Fwalker, activity-limiting angina, activity-limiting osteoarthritis, or other condition that limits activity.\n* Pregnancy\n* Diagnosis of PAH etiology other than idiopathic, heritable\n* Functional class IV heart failure\n* Requirement of \\> 2 diuretic adjustment in the prior three months.","ALL","15 Years","80 Years",{"count":19,"type":20},150,"ESTIMATED","OBSERVATIONAL","Pulmonary arterial hypertension (PAH) is a severe disease with a delayed diagnosis and markedly elevated mortality. High-risk populations, such as those with known genetic defects, provide a unique opportunity to determine the features of susceptibility and resilience to PAH. This proposal will fundamentally overturn the prevailing understanding of PAH by creating molecularly-driven signatures of susceptibility and resilience, provide novel insight into disease severity, and potentially identify new therapeutic targets.\n\nFunding Source - FDA OOPD",[24,25,26,27],"Idiopathic Pulmonary Arterial Hypertension","Heritable Pulmonary Arterial Hypertension","Unaffected Mutation Carriers: Healthy Participants With a Known BMPR2 Gene Mutation and Normal Pulmonary Pressure and RV Function on Echo","Healthy Individuals With no Cardiopulmonary Disease",[29],"pulmonary hypertension","RECRUITING","2026-03-09",{"date":33,"type":34},"2026-03-10","ACTUAL",{"date":36,"type":34},"2022-11-01",{"date":38,"type":20},"2026-08-31",{"name":40,"class":41},"Vanderbilt University Medical Center","OTHER",""]