Homocystinuria clinical trials
The registry lists 21 studies for Homocystinuria across more than 10 countries. 5 are recruiting or about to start. Per ClinicalTrials.gov, last updated 2026-10-08.
Keep track of what changes. Save the Homocystinuria studies recruiting or about to start, and get an email each week — studies that open, close, add sites or post results.
Watch these studiesStatus
Who runs them
Travere Therapeutics, Inc. (4) · King Fahad Armed Forces Hospital (1) · Aeglea Biotherapeutics (1) · Vitaflo International, Ltd (1) · National Center for Research Resources (NCRR) (1) · University Children's Hospital, Zurich (1) · West Kazakhstan Medical University (1) · University of Colorado, Denver (1)
Who these studies take
Of the 4 Homocystinuria studies recruiting now, 1 (25%) set no upper age limit and 3 (75%) stop at 75 or younger. 4 (100%) take children under 18. 0 (0%) are for women only and 0 (0%) for men only; 1 (25%) take healthy volunteers.
| Age | Women | Men |
|---|---|---|
| 10 | 3 (75%) | 3 (75%) |
| 18 | 4 (100%) | 4 (100%) |
| 30 | 3 (75%) | 3 (75%) |
| 40 | 3 (75%) | 3 (75%) |
| 50 | 3 (75%) | 3 (75%) |
| 65 | 3 (75%) | 3 (75%) |
| 75 | 1 (25%) | 1 (25%) |
| 85 | 1 (25%) | 1 (25%) |
Across all 21 studies, recruiting or not: 76% stop at 75 or younger and 76% at 65; 71% take children; 0% are for women only and 5% for men only; 38% take healthy volunteers. From each study’s registry entry; the criteria on its page decide.
Studies
Recruiting first, then most recently updated. Showing 21 of 21. search them.
- Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care TreatmentRecruitingNCT06247085Phase 314 countries
- Pegtibatinase as a Treatment for Patients With Classical Homocystinuria (HCU) (Also Known as the COMPOSE Study)RecruitingNCT03406611Phase 1/23 countries
- A Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)Enrolling by invitationNCT06431893Phase 314 countries
- Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)RecruitingNCT065566151 country
- Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in KazakhstanRecruitingNCT059101511 country
- Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)CompletedNCT029987104 countries
- Early Check: Expanded Screening in NewbornsActive, not recruitingNCT036552231 country
- Evaluation of the Express Plus RangeCompletedNCT05051657Not applicable1 country
- Proof of Concept Creatine Supplementation for Homocystinuria StudyActive, not recruitingNCT06495567Not applicable1 country
- Baby Detect : Genomic Newborn ScreeningCompletedNCT056874741 country
- The Effect of Dietary Management and Cysteine Supplementation on Growth Parameters and Biochemical Control for Pediatric Qatari Patients Affected with Classical B6 Non-responsive Homocystinuria.Status unknownNCT06622577Not applicable1 country
- Incidence and Risk Factors of Ocular Complications Among Patients With HomocystinuriaStatus unknownNCT065453051 country
- A Multiple Ascending Dose Study of ACN00177 (Pegtarviliase) in Subjects With CBS DeficiencyTerminatedNCT05154890Phase 1/23 countries
- Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult VolunteersCompletedNCT05462132Phase 11 country
- Betaine METABOLISM OF PATIENTS With HomocystinuriaCompletedNCT02404337Phase 21 country
- Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on HomocystinuriaSuspendedNCT04015557Phase 1/21 country
- Effects of Exercise on Metabolic Parameters in Classical HomocystinuriaCompletedNCT040217321 country
- Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineCompletedNCT01192828Phase 1/21 country
- EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentCompletedNCT01793090Phase 21 country
- Homocystinuria: Treatment With N-AcetylcysteineCompletedNCT00483314Phase 21 country
- Study of Homocysteine Metabolism in HomocystinuriaCompletedNCT00004356