[{"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,3,0,[8,46,69],{"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","2026-08-05",{"date":36,"type":37},"2026-08-07","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":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":17,"minAge":53,"maxAge":19,"enrollmentInfo":54,"targetDuration":4,"studyType":23,"phases":56,"briefSummary":59,"conditions":60,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":61,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":68},"100316977","pegtibatinase-as-a-treatment-for-patients-with-classical-homocystinuria-hcu-also-known-as-the-compose-study-100316977","NCT03406611","Pegtibatinase as a Treatment for Patients With Classical Homocystinuria (HCU) (Also Known as the COMPOSE Study)","A Phase 1\u002F2 Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Effects on Clinical Outcomes of Pegtibatinase (TVT-058) Administered Subcutaneously in Subjects With Cystathionine Beta Synthase-Deficient Homocystinuria (COMPOSE)","Inclusion Criteria:\n\n* Age\n\n  * Cohort 7 (currently enrolling): ≥5 to \\\u003C12 years of age.\n  * Completed Cohorts 1-6: ≥12 to 65 years of age.\n* Diagnosis of classical homocystinuria (HCU)\n\n  * Cohort 7 (currently enrolling): Diagnosis based on clinical, biochemical, and\u002For molecular genetic testing.\n  * Completed Cohorts 1-6: Genetically confirmed cystathionine beta-synthase (CBS)-deficient HCU.\n* Plasma total homocysteine (tHcy)\n\n  * Cohort 7 (currently enrolling): Plasma tHcy ≥50 μM at Screening.\n  * Completed Cohorts 1-6: Plasma tHcy ≥50 μM at Screening and documented historical plasma tHcy ≥80 μM.\n* Willing and able (or parent\u002Flegal guardian willing and able) to provide informed consent\u002Fassent and comply with study procedures.\n* Willing to maintain a generally stable standard-of-care treatment regimen, including dietary management and HCU-related therapies, unless changes are medically necessary.\n* Participants of childbearing potential must have a negative pregnancy test before study treatment and agree to use protocol-specified contraception, if applicable.\n\nExclusion Criteria:\n\nCohort 7 only:\n\n* Diagnosis of Marfan syndrome, methylenetetrahydrofolate reductase (MTHFR) deficiency, or a disorder of cobalamin metabolism.\n* History of a major thrombotic event within the previous 6 months.\n* Body weight \\\u003C15 kg.\n\nAll Cohorts:\n\n* Previous treatment with pegtibatinase or pegtarviliase)\n* Participation in a pegtibatinase clinical study.\n* Receipt of another investigational drug or investigational medical device within 30 days before Screening or planned use during study participation.\n* Use of injectable polyethylene glycol (PEG)-containing medications (other than pegtibatinase or PEG-containing vaccines) within 3 months before Screening or during study participation.\n* Known hypersensitivity to pegtibatinase or a history of severe hypersensitivity to a PEG-containing product.\n* Active HIV, hepatitis B, or hepatitis C infection.\n* History of organ transplantation or immunosuppressive therapy.\n* Clinically significant medical conditions that could interfere with study participation or participant safety.\n* Pregnant or breastfeeding, or planning to become pregnant during study participation.\n* Major surgery planned during the study period.\n* Any condition that could prevent the participant from complying with study procedures or completing the study.","5 Years",{"count":55,"type":22},39,[57,58],"PHASE1","PHASE2","Researchers are looking for a better way to treat people who have classical homocystinuria (HCU), a rare condition that is passed down by parents (or \"genetic condition\"). It is caused by changes in the cystathionine beta-synthase (or \"CBS\") gene and prevents an enzyme from working correctly in the body. This enzyme breaks down a substance called homocysteine (from dietary methionine found in protein) and keeps both homocysteine and methionine at normal levels. When this enzyme is not working, homocysteine and methionine build up in the blood, which spreads into different tissues of the body and stops these body tissues from working normally.\n\nPeople with HCU can experience problems with vision, bones, blood vessels, and cognitive function (the ability to think, learn, and remember). Treatments available for HCU, such as a low protein diet and betaine (Cystadane®), help reduce homocysteine levels. The diet is a low methionine diet and a methionine-free protein supplement (a product that provides extra protein to help meet daily protein needs). These treatments are either not sufficient or are hard to take for many patients.\n\nPegtibatinase was developed by scientists to be a version of the CBS enzyme that can be given to people with HCU. Researchers believe that giving pegtibatinase to people with HCU already getting medical treatment (or \"standard of care\") may reduce their homocysteine levels.\n\nThis study is split into 7 different groups getting different amounts of drug. The first 6 groups have already finished the study.\n\nGroup 7 plans to enroll participants from the US (virtual and in-person), France, and Qatar.",[28],{"date":62,"type":37},"2026-08-10",{"date":64,"type":37},"2019-01-22",{"date":66,"type":22},"2027-07",{"name":43,"class":44},12,{"id":70,"slug":71,"hasResults":11,"nctId":72,"briefTitle":73,"officialTitle":74,"acronym":75,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":17,"minAge":77,"maxAge":4,"enrollmentInfo":78,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":81,"conditions":82,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":93},"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":79,"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":85,"type":37},"2025-04-10",{"date":87,"type":37},"2025-01-15",{"date":89,"type":22},"2025-09",{"name":91,"class":92},"University Children's Hospital, Zurich","OTHER",1]