12 completed, 4 unknown, 2 withdrawn, 1 active not recruiting. 6 Not applicable, 4 Phase 1, 1 Phase 2, 1 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 6 | Completed 4, Recruiting 1, Unknown 1 |
| Phase 1 | 4 | Completed 4 |
| Phase 2 | 1 | Completed 1 |
| Phase 3 | 1 | Completed 1 |
Follow Tyrosinemias: new trials by email Literature Review of Tyrosinemias trials Research Report on Tyrosinemias
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 |
|---|---|---|---|---|---|---|
| A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients Nitisinone - Hereditary Tyrosinemia, Type I | Withdrawn | Swedish Orphan Biovitrum | 2025-09-01 | 2025-12-23 | ||
| GMP Powdered Substitutes in PKU and TYR GMP Intervention Product - Phenylketonuria, Tyrosinemia | Not applicable | Recruiting | Nutricia UK Ltd | 40 | 2025-05-20 | 2025-12-19 |
| Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies Zero minis (range of protein substitutes in tablet form) - Tyrosinemia, Type I, Tyrosinemia, Type II | Unknown | metaX Institut fuer Diatetik GmbH | 15 | 2024-04-01 | 2024-03-07 | |
| 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 | |
| Evaluation of TYR Sphere in France Tyr sphere - Tyrosinemia, AKU | Not applicable | Completed | Vitaflo International, Ltd | 14 | 2021-12-01 | 2025-11-28 |
| Evaluation of the Express Plus Range PKU express plus - Phenylketonurias, PKU | Not applicable | Completed | Vitaflo International, Ltd | 28 | 2021-06-14 | 2026-05-18 |
| GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR PKU/TYR GMP Protein Substitute - PKU, Tyrosinemias | Not applicable | Completed | Nutricia UK Ltd | 45 | 2020-09-16 | 2023-11-27 |
| Bio Equivalency 20 Mgm Orfadin and 20 Mgm of Nitisonine Nitisinone, Orfadin - Hereditary Tyrosinemia, Type I | Not applicable | Unknown | Sutphin Drugs | 4 | 2019-11-01 | 2019-10-03 |
| Evaluation of TYR Sphere TYR sphere - Tyrosinemias, Alkaptonuria | Not applicable | Completed | Vitaflo International, Ltd | 18 | 2019-10-01 | 2024-02-16 |
| Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study) Hereditary Tyrosinemia, Type I | Unknown | Yassin Abdelghaffar Charity Center for Liver Disease and Research | 50 | 2019-04-05 | 2019-01-10 | |
| 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 | |
| Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin) Tyrosinosis, Hepatorenal Tyrosinemia | Withdrawn | CENTOGENE GmbH Rostock | 2018-08-20 | 2023-02-13 | ||
| Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1) Nitisinone, Nitisinone Baked Tablet, Orfadin - Hereditary Tyrosinemia, Type I | Phase 1 | Completed | Cycle Pharmaceuticals Ltd. | 24 | 2016-03-01 | 2017-06-14 |
| Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1) Nitisinone - Hereditary Tyrosinemia, Type I | Phase 1 | Completed | Cycle Pharmaceuticals Ltd. | 20 | 2015-11-01 | 2017-03-15 |
| Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin Nitisinone, Nitisinone 10 mg Tablet High Compritol, Orfadin - Hereditary Tyrosinemia, Type I | Phase 1 | Completed | Cycle Pharmaceuticals Ltd. | 24 | 2015-10-01 | 2017-03-15 |
| Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Nitisinone - Hereditary Tyrosinemia, Type I | Phase 3 | Completed | Swedish Orphan Biovitrum | 18 | 2014-12-01 | 2015-11-11 |
| Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care Nitisinone - Hereditary Tyrosinemia, Type I | Completed | Swedish Orphan Biovitrum | 315 | 2013-09-01 | 2024-09-19 | |
| Taste and Palatability of Orfadin Suspension Nitisinone - Hereditary Tyrosinemia, Type I | Phase 1 | Completed | Swedish Orphan Biovitrum | 18 | 2012-10-01 | 2014-11-06 |
| Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I NTBC - Tyrosinemia, Type I | Phase 2 | Completed | National Center for Research Resources (NCRR) | 1994-11-01 | 2005-06-24 |
Glutaric Acidemia I (4) · Homocystinuria (4) · Phenylketonurias (4) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3) · Acidemia, isovaleric (3) · Alkaptonuria (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)
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) · Genetic Diseases, Inborn (20) · Nervous System Diseases (20) · Nutritional and Metabolic Diseases (20) · Metabolic Diseases (18) · Metabolism, Inborn Errors (18) · Connective Tissue Diseases (4) · Disease Attributes (4) · Hyperhomocysteinemia (4) · Pathologic Processes (4)
nitisinone (8) · Aging (1)
Swedish Orphan Biovitrum (4) · Cycle Pharmaceuticals Ltd. (3) · Vitaflo International, Ltd (3) · Nutricia UK Ltd (2) · CENTOGENE GmbH Rostock (1) · Centre Hospitalier Universitaire de Liege (1) · National Center for Research Resources (NCRR) (1) · RTI International (1) · Sutphin Drugs (1) · West Kazakhstan Medical University (1) · Yassin Abdelghaffar Charity Center for Liver Disease and Research (1) · metaX Institut fuer Diatetik GmbH (1)
United Kingdom (6) · France (4) · Germany (4) · Belgium (3) · South Africa (3) · Denmark (2) · India (2) · Sweden (2) · Austria (1) · China (1) · Czechia (1) · Egypt (1) · Finland (1) · Hungary (1) · Ireland (1)
Anita MacDonald (2) · Anita MacDonald, Professor (1) · Curt Scharfe, MD, PhD (1) · Erik Brouwer, MD (1) · Gary Hubbard, Dr (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Ioannis Kottakis, MD, PhD (1) · Jean-Baptiste Arnoux (1) · Jess G. Thoene (1) · Laurent Servais (1) · Lyazzat M. Syrlybayeva, MD (1) · Peter Bauer, Prof. (1) · Rebecca Stratton (1)