9 completed, 3 recruiting, 3 unknown, 2 active not recruiting. 6 Phase 2, 5 Phase 1, 3 Not applicable, 2 Phase 3.
Follow Homocystinuria: new trials by email Literature Review of Homocystinuria trials Research Report on Homocystinuria
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency) Interview - Homocystinuria | Recruiting | University Children's Hospital, Zurich | 80 | 2025-01-15 | 2025-04-10 | |
| 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. Cysteine - Classical Homocystinuria | Not applicable | Unknown | Hamad Medical Corporation | 50 | 2024-12-01 | 2024-10-02 |
| Proof of Concept Creatine Supplementation for Homocystinuria Study Creatine, Dietary methionine tracer and protein intake - Homocystinuria | Not applicable | Active not recruiting | University of British Columbia | 9 | 2024-08-19 | 2026-02-12 |
| 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) Pegtibatinase - Homocystinuria | Phase 3 | Enrolling by invitation | Travere Therapeutics, Inc. | 100 | 2024-04-30 | 2026-05-28 |
| Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria Lensectomy and vitrectomy - Complications | Unknown | King Fahad Armed Forces Hospital | 6 | 2024-01-01 | 2024-08-13 | |
| Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care Treatment Pegtibatinase, Placebo - Homocystinuria | Phase 3 | Recruiting | Travere Therapeutics, Inc. | 70 | 2023-12-28 | 2026-10-08 |
| Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years - Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease | Unknown | West Kazakhstan Medical University | 2250 | 2022-10-03 | 2023-06-18 | |
| Baby Detect : Genomic Newborn Screening Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1 | Completed | Centre Hospitalier Universitaire de Liege | 6824 | 2022-09-01 | 2025-08-12 | |
| Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult Volunteers SYNB1353 - Homocystinuria | Phase 1 | Completed | Synlogic | 31 | 2022-07-07 | 2023-03-17 |
| Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria Acetaminophen, N-acetylcysteine - CBS Deficiency | Phase 1 / Phase 2 | Suspended | Hospital de Clinicas de Porto Alegre | 10 | 2022-02-11 | 2021-06-30 |
| Evaluation of the Express Plus Range PKU express plus - Phenylketonurias, PKU | Not applicable | Completed | Vitaflo International, Ltd | 28 | 2021-06-14 | 2026-05-18 |
| A Multiple Ascending Dose Study of ACN00177 (Pegtarviliase) in Subjects With CBS Deficiency Pegtarviliase IV, Pegtarviliase SC - Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Phase 1 / Phase 2 | Terminated | Aeglea Biotherapeutics | 13 | 2021-05-13 | 2023-07-27 |
| Effects of Exercise on Metabolic Parameters in Classical Homocystinuria Homocystinuria | Completed | University of Lausanne | 12 | 2019-07-01 | 2021-03-30 | |
| Pegtibatinase as a Treatment for Patients With Classical Homocystinuria (HCU) (Also Known as the COMPOSE Study) Pegtibatinase, Placebo - Homocystinuria | Phase 1 / Phase 2 | Recruiting | Travere Therapeutics, Inc. | 39 | 2019-01-22 | 2026-08-10 |
| Early Check: Expanded Screening in Newborns Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome | Active not recruiting | RTI International | 30000 | 2018-10-15 | 2026-07-01 | |
| Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA) Homocystinuria Due to CBS Deficiency | Completed | Travere Therapeutics, Inc. | 110 | 2017-01-01 | 2026-09-09 | |
| Betaine METABOLISM OF PATIENTS With Homocystinuria Betaine - Homocystinuria | Phase 2 | Completed | Assistance Publique - Hôpitaux de Paris | 12 | 2015-07-01 | 2023-02-03 |
| Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine taurine - Homocystinuria | Phase 1 / Phase 2 | Completed | University of Colorado, Denver | 15 | 2010-01-01 | 2018-07-09 |
| Homocystinuria: Treatment With N-Acetylcysteine N-acetylcysteine - Homocystinuria | Phase 2 | Completed | McGill University Health Centre/Research Institute of the McGill University Health Centre | 5 | 2007-11-01 | 2009-02-18 |
| Study of Homocysteine Metabolism in Homocystinuria Homocystinuria | Completed | National Center for Research Resources (NCRR) | 60 | 1995-02-01 | 2005-06-24 |
Glutaric Acidemia I (4) · Tyrosinemias (4) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3) · Acidemia, isovaleric (3) · Argininosuccinic Aciduria (3) · Beta ketothiolase deficiency (3) · Biotinidase Deficiency (3) · Carbamoyl-Phosphate Synthase I Deficiency Disease (3) · Carnitine palmitoyl transferase 1A deficiency (3) · Carnitine palmitoyl transferase 2 deficiency (3) · Carnitine-Acylcarnitine Translocase Deficiency (3) · Citrullinemia (3) · Hyperargininemia (3) · Maple Syrup Urine Disease (3)
Amino Acid Metabolism, Inborn Errors (20) · Brain Diseases (20) · Brain Diseases, Metabolic (20) · Brain Diseases, Metabolic, Inborn (20) · Central Nervous System Diseases (20) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (20) · Connective Tissue Diseases (20) · Genetic Diseases, Inborn (20) · Hyperhomocysteinemia (20) · Metabolic Diseases (20) · Nervous System Diseases (20) · Nutritional and Metabolic Diseases (20) · Skin and Connective Tissue Diseases (20) · Metabolism, Inborn Errors (17) · Carbohydrate Metabolism, Inborn Errors (3)
Acetylcysteine (2) · Acetaminophen (1) · Aging (1) · Betaine (1) · Creatine (1) · Cysteine (1) · Interviews as Topic (1) · Taurine (1) · Vitrectomy (1)
Travere Therapeutics, Inc. (4) · Aeglea Biotherapeutics (1) · Assistance Publique - Hôpitaux de Paris (1) · Centre Hospitalier Universitaire de Liege (1) · Hamad Medical Corporation (1) · Hospital de Clinicas de Porto Alegre (1) · King Fahad Armed Forces Hospital (1) · McGill University Health Centre/Research Institute of the McGill University Health Centre (1) · National Center for Research Resources (NCRR) (1) · RTI International (1) · Synlogic (1) · University Children's Hospital, Zurich (1) · University of British Columbia (1) · University of Colorado, Denver (1) · University of Lausanne (1)
United States (8) · Qatar (5) · United Kingdom (5) · France (4) · Australia (3) · Belgium (3) · Ireland (3) · Saudi Arabia (3) · Canada (2) · Germany (2) · Italy (2) · Poland (2) · Portugal (2) · Spain (2) · Switzerland (2)
Michael Imperiale, MD (4) · Anita MacDonald (1) · Bruce Barshop (1) · Cortney Caudill (1) · Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Hassan A Ahmed, MS (1) · Ida VD Schwartz, PhD (1) · Johan VanHove, MD PhD MBA (1) · Laurent Servais (1) · Lyazzat M. Syrlybayeva, MD (1) · Rajavel Elango, PhD (1) · Victoria I. Kononets, MD, MS (1)
PMID 31315600, PMID 35142618, PMID 36376887, PMID 38283151, PMID 40382700
2018 (1), 2019 (1)