[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"homocystinuria\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:homocystinuria":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,46],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100535073","phase-3-a-study-to-investigate-efficacy-and-safety-of-pegtibatinase-compared-with-placebo-in-participants-12-to-65-years-of-age-with-classical-homocystinuria-hcu-due-to-cystathionine-beta-synthase-deficiency-receiving-standard-of-care-treatment-100535073",false,"NCT06247085","A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment","A Phase 3, Parallel-Group Treatment, Blinded, Randomized, Placebo-Controlled Study To Assess The Efficacy And Safety Of Pegtibatinase Administered Subcutaneously In Addition To Standard Of Care In Participants With Classical Homocystinuria Due To Cystathionine Beta Synthase Deficiency (HARMONY)","HARMONY","Inclusion Criteria:\n\n* Must be ≥12 to ≤65 years of age, at the time of signing the informed consent\n* Must have a diagnosis of classical HCU based on clinical, biochemical, and\u002For molecular genetic testing\n* Plasma tHcy ≥80 µM at Screening visit, with allowance for up to 18 participants who may be enrolled with a Screening plasma tHcy ≥50 to \\\u003C80 µM\n* Participants who can become pregnant must have a negative pregnancy test before starting the study and must use a highly effective form of birth control (less than 1% risk of pregnancy per year) during the study and for at least 4 weeks after the last dose.\n* Willing to maintain a generally stable diet for the duration of the study (unless changes are required based on medical\u002Fsafety reasons)\n* Willing to maintain generally stable intake and doses of betaine, pyridoxine, and medical food for the duration of the study (unless changes are required based on medical\u002Fsafety reasons)\n\nExclusion Criteria:\n\n* Diagnosis of Marfan syndrome, methylenetetrahydrofolate reductase (MTHFR) deficiency, or disorder of cobalamin metabolism\n* Concurrent disease or condition (eg, history or presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematologic, gastrointestinal, endocrine, immunologic, dermatologic, neurological, oncologic, or psychiatric disease) that would interfere with study participation or safety (excluding complications of HCU).\n* History of major thrombotic event (eg, cerebrovascular accident, myocardial infarction, pulmonary embolism) in the previous 6 months.\n* Body weight ≥160 kg.\n* Use or planned use of any injectable drugs containing PEG (excluding PEG-containing vaccines)\n* Any previous exposure to pegtibatinase and\u002For previous participation in a clinical study that included administration of pegtibatinase or pegtarviliase\n* Prior severe immune reaction to a PEG-containing product","ALL","12 Years","65 Years",{"count":21,"type":22},70,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3","The purpose of this study is to measure efficacy and safety of pegtibatinase treatment compared with placebo in participants with classical HCU receiving standard of care. Study details include:\n\n* Total Study duration: up to 38 weeks\n* Screening:\n\n  * Initial Screening duration: up to 4 weeks\n  * Pre-treatment Diet Standardization Period duration: up to 6 weeks\n* Blinded Treatment Duration: 24 weeks\n\n  * 2-week blinded dose titration period\n  * 22-week blinded assessment period\n* Safety Follow-Up: 4 weeks after last dose (as applicable for those not enrolling in the long term extension study, ENSEMBLE)",[28],"Homocystinuria",[30,31,32],"HCU","cystathionine beta synthase deficiency","Classical Homocystinuria","RECRUITING","2026-05-05",{"date":36,"type":37},"2026-05-08","ACTUAL",{"date":39,"type":37},"2023-12-28",{"date":41,"type":22},"2027-09",{"name":43,"class":44},"Travere Therapeutics, Inc.","INDUSTRY",52,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":58,"conditions":59,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":60,"lastUpdatePostDateStruct":61,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":70},"100558860","health-related-quality-of-life-hrqol-in-classical-homocystinuria-cbs-deficiency-100558860","NCT06556615","Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)","Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria","CBS_HrQoL","Inclusion criteria\n\n* Patients with CBS deficiency from age 8 years\n* Parents of patient(s) \\\u003C 18 years with cognitive impairment\n* Parents of patients between age 4 and 7\n* Experts on CBS deficiency\n* Able to give informed consent as documented by signature\n\nExclusion criteria\n\n\\- Sufficient command of the German or the English language","8 Years",{"count":56,"type":22},80,"OBSERVATIONAL","Patients, parents of young \u002F handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young \u002F handicapped patients. A final questionnaire version will be tested for psychometric criteria including validity and reliability.",[28],"2025-04-09",{"date":62,"type":37},"2025-04-10",{"date":64,"type":37},"2025-01-15",{"date":66,"type":22},"2025-09",{"name":68,"class":69},"University Children's Hospital, Zurich","OTHER",1]