251. 尿素サイクル異常症 ［臨床試験数：20，薬物数：29（DrugBank：9），標的遺伝子数：1，標的パスウェイ数：1］
Searched query = "Urea cycle disorder", "N acetylglutamate synthase deficiency", "NAGS deficiency", "Carbamoyl phosphate synthetase I deficiency", "CPS1 deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia hiperamonemia homocitrulinuria syndrome", "HHH syndrome"
The queries were searched in Public_title, Scientific_title, and Condition of the data. Export date: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT03767270 | December 2019 | 30 September 2019 | Safety, Tolerability and PK/PD Evaluation of Intravenous Administration of MRT5201 in Patients With OTC Deficiency | A Phase 1/2 Single Ascending Dose Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intravenously Administered MRT5201 in Subjects With Ornithine Transcarbamylase Deficiency | Ornithine Transcarbamylase Deficiency | Biological: MRT5201;Other: Placebo | Translate Bio, Inc. | Not recruiting | 18 Years | N/A | All | 0 | Phase 1/Phase 2 | ||
| 2 | NCT03933410 | August 2019 | 9 September 2019 | UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder | A Phase 2, Open-label Study to Evaluate the Efficacy and Safety of KB195 in Subjects With A Urea Cycle Disorder With Inadequate Control on Standard of Care | Urea Cycle Disorder | Drug: KB195 | Kaleido Biosciences | Recruiting | 18 Years | 65 Years | All | 24 | Phase 2 | United States | |
| 3 | NCT03884959 | July 12, 2018 | 1 April 2019 | A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients | A Prospective, Open Label, Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients | Urea Cycle Disorder | Biological: HepaStem Infusion | LIFELIVER | Recruiting | N/A | 12 Years | All | 5 | Phase 2 | Korea, Republic of | |
| 4 | EUCTR2018-000156-18-ES | 18/06/2018 | 20 August 2018 | A clinical study to learn about the effects of a virus that transfers the gene for human Ornithine Transcarbamylase (OTC) in adults with late-onset OTC deficiency in the long term | A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults with Late-Onset OTC Deficiency | Ornithine transcarbamylase deficiency MedDRA version: 20.0 Level: LLT Classification code 10071107 Term: Ornithine transcarbamylase deficiency System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: DTX301 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: Not yet assigned Other descriptive name: DTX301 Concentration unit: Other Concentration type: not less then Concentration number: 5000000000000- | Ultragenyx Pharmaceutical, Inc. | Authorised | Female: yes Male: yes | 9 | Phase 1;Phase 2 | United States;Canada;Spain;United Kingdom | |||
| 5 | NCT03335488 | February 20, 2018 | 22 October 2019 | Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders | A Randomised, Controlled, Open-Label Parallel Arm Study of Safety, PK and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients With Urea Cycle Disorders | Urea Cycle Disorder | Drug: RAVICTI;Drug: NaPBA | Horizon Therapeutics, LLC | Recruiting | 2 Months | 99 Years | All | 30 | Phase 4 | United States;Belgium;Italy;Spain;Switzerland | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT03064048 | September 15, 2017 | 30 September 2019 | Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD | Effect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD) | Argininosuccinate Lyase Deficiency;Urea Cycle Disorder;Urea Cycle Disorders, Inborn;Argininosuccinic Aciduria | Dietary Supplement: Neo-ASA;Dietary Supplement: Placebo | Baylor College of Medicine | Rare Diseases Clinical Research Network;Neogenis Laboratories | Recruiting | 6 Years | 50 Years | All | 16 | N/A | United States |
| 7 | NCT03179878 | June 16, 2017 | 11 June 2018 | Safety and Tolerability of SYNB1020-CP-001 | A Phase 1, First-in-human, Oral Single and Multiple Dose-Escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1020 in Healthy Adult Volunteers to Evaluate Safety, Tolerability, Dosing, and Pharmacodynamics | Healthy Volunteer;Urea Cycle Disorder | Drug: Placebo;Drug: SYNB1020 | Synlogic | Not recruiting | 18 Years | 64 Years | All | 52 | Phase 1 | United States | |
| 8 | NCT03181828 | March 24, 2017 | 15 April 2019 | Manipulating the Gut Microbiome Study | Manipulating the Gut Microbiome Study | Urea Cycle Disorder | Drug: Acetohydroxamic Acid Oral Tablet [Lithostat] | Nicholas Ah Mew | Not recruiting | 18 Years | 60 Years | All | 4 | Phase 1/Phase 2 | United States | |
| 9 | NCT02991144 | January 2017 | 11 November 2019 | Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency | A Phase 1/2, Open-Label Safety and Dose-Finding Study of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults With Late-Onset OTC Deficiency | Ornithine Transcarbamylase (OTC) Deficiency | Genetic: scAAV8OTC;Drug: Oral prednisone | Ultragenyx Pharmaceutical Inc | Recruiting | 18 Years | N/A | All | 15 | Phase 1/Phase 2 | United States;Canada;Spain;United Kingdom | |
| 10 | NCT02670889 | November 2016 | 5 September 2016 | Urease Inhibitor Drug Treatment for Urea Cycle Disorders | Manipulating the Gut Microbiome in Urea Cycle Disorders | Ornithine Transcarbamylase Deficiency;Argininosuccinate Synthetase Deficiency (Citrullinemia);Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria);Carbamyl-Phosphate Synthase I Deficiency | Drug: Acetohydroxamic Acid;Drug: Isotopic Intravenous [13C]-Urea | Nicholas Ah Mew | Data Management and Coordinating Center (DMCC);Children's Hospital of Philadelphia | Not recruiting | 18 Years | 60 Years | Both | 16 | Phase 1/Phase 2 | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 11 | NCT02246218 | December 2014 | 16 December 2017 | A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders | An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPB; RAVICTI®) in Pediatric Subjects Under Two Years of Age With Urea Cycle Disorders (UCDs) | Urea Cycle Disorder | Drug: RAVICTI | Horizon Therapeutics, LLC | Not recruiting | N/A | 2 Years | All | 27 | Phase 4 | United States;Canada | |
| 12 | EUCTR2014-000650-11-BE | 15/09/2014 | 28 September 2015 | HEP002 is a clinical study designed for paediatric patients with urea cycle disorders (UCD). UCD patients will receive several infusions of HepaStem. The efficacy as well as the safety of the medicinal product will be assessed during the year following infusions. | A prospective, open label, multicountry, efficacy and safety study of several infusions of HepaStem in Urea Cycle Disorders pediatric patients. - HEP002 | The urea cycle disorders are inborn errors of metabolism that affect the transfer of nitrogen into urea. There are seven disorders to be investigated: carbamoylphosphate synthetase I deficiency [CPS ID], ornithine transcarbamylase deficiency [OTCD], argininosuccinic acid synthetase deficiency [ASSD], argininosuccinic acid lyase deficiency [ASLD], arginase deficiency [ARGD], N-acetylglutamate synthase deficiency [NAGSD], and citrine deficiency. MedDRA version: 18.0 Level: LLT Classification code 10013373 Term: Disorders of urea cycle metabolism System Organ Class: 100000004861 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: HepaStem Pharmaceutical Form: Suspension for injection INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells Current Sponsor code: HHALPC Concentration unit: million organisms/ml million organisms/millilitre Concentration type: equal Concentration number: 50- | Promethera Biosciences | Authorised | Female: yes Male: yes | 20 | Spain;Belgium | ||||
| 13 | NCT02252770 | September 2014 | 29 January 2018 | Nitric Oxide Supplementation in Argininosuccinic Aciduria | Nitric Oxide Supplementation as a Therapeutic Intervention in Argininosuccinic Aciduria | Argininosuccinic Aciduria;Argininosuccinate Lyase Deficiency;Urea Cycle Disorders | Dietary Supplement: Nitric oxide supplement;Dietary Supplement: Placebo | Baylor College of Medicine | Recruiting | 8 Years | 64 Years | All | 12 | N/A | United States | |
| 14 | EUCTR2013-001045-14-BE | 22/04/2013 | 2 October 2017 | A clinical study for evaluating long-term safety of patients suffering from Urea Cycle disorders (UCD) or Crigler-Najjar Syndrome (CN) having received infusions of HepaStem. | SAF 001: A long-term safety follow-up study of patients suffering from Urea Cycle disorders (UCD) or Crigler-Najjar Syndrome (CN) having received infusions of HepaStem. - SAF001 | Crigler-Najjar syndrome is associated with a complete or partial hepatic deficit of bilirubin glucuronosyltransferase activity and is apparent during the neonatal period by intense jaundice. The urea cycle disorders are inborn errors of metabolism that affect the transfer of nitrogen into urea. There are six disorders: N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, citrullinemia, argininosuccinic aciduria and argininemia MedDRA version: 15.1 Level: LLT Classification code 10021601 Term: Inborn error of metabolism NOS System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: HepaStem Pharmaceutical Form: Suspension for injection INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells CAS Number: NA Current Sponsor code: HHALPC Other descriptive name: NA Concentration unit: million organisms/ml million organisms/millilitre Concentration type: equal Concentration number: 5- | Promethera Biosciences | Not Recruiting | Female: yes Male: yes | 18 | Phase 1;Phase 2 | Portugal;Belgium;United Kingdom;Italy | |||
| 15 | EUCTR2011-004074-28-GB | 20/07/2012 | 4 August 2015 | A phase I/II trial for evaluating both safety and preliminary efficacy of one cycle of Promethera HepaStem® in Urea Cycle Disorders and Crigler-Najjar Syndrome patients | A prospective, open label, multicenter, randomized, safety and preliminary efficacy study of one cycle of Promethera HepaStem® in Urea Cycle Disorders and Crigler-Najjar Syndrome patients - UKHEP001 | Crigler-Najjar syndrome is associated with a complete or partial hepatic deficit of bilirubin glucuronosyltransferase activity and is apparent during the neonatal period by intense jaundice. The urea cycle disorders are inborn errors of metabolism that affect the transfer of nitrogen into urea. There are six disorders: N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, citrullinemia, argininosuccinic aciduria and argininemia MedDRA version: 17.0 Level: LLT Classification code 10021601 Term: Inborn error of metabolism NOS System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: HepaStem Pharmaceutical Form: Suspension for injection INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells CAS Number: NA Current Sponsor code: HHALPC Other descriptive name: NA Concentration unit: million organisms/ml million organisms/millilitre Concentration type: equal Concentration number: 5- | Promethera Biosciences | Not Recruiting | Female: yes Male: yes | 21 | Phase 1/2 | United Kingdom;Italy;Belgium | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 16 | EUCTR2008-003865-23-GB | 08/09/2008 | 14 August 2012 | A Phase 2, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 (glyceryl tri-[4-phenylbutyrate]) Compared to Sodium Phenylbutyrate in Adult and Pediatric Subjects with Urea Cycle Disorders | A Phase 2, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 (glyceryl tri-[4-phenylbutyrate]) Compared to Sodium Phenylbutyrate in Adult and Pediatric Subjects with Urea Cycle Disorders | Urea Cycle Disorder (urea cycle enzyme or transporter deficiency) MedDRA version: 9.1 Level: LLT Classification code 10013373 Term: Disorders of urea cycle metabolism | Product Name: glyceryl tri-(4-phenylbutyrate)(GT4P) Product Code: HPN-100 Pharmaceutical Form: Oral liquid INN or Proposed INN: NA CAS Number: NA Current Sponsor code: HPN-100 Other descriptive name: glyceryl tri-(4-phenylbutyrate) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1-1 | Hyperion Therapeutics Limited | Not Recruiting | Female: yes Male: yes | 16 | Phase 2 | United Kingdom | |||
| 17 | EUCTR2006-000136-27-DE | 17/03/2008 | 18 April 2016 | Open, Prospective, Uncontrolled, Multicentre Study to Evaluate The Safety and Efficacy of Multiple Applications of Liver Cell Suspension Into The Portal Vein in Children with Urea Cycle Disorders (UCDs) | Open, Prospective, Uncontrolled, Multicentre Study to Evaluate The Safety and Efficacy of Multiple Applications of Liver Cell Suspension Into The Portal Vein in Children with Urea Cycle Disorders (UCDs) | Neonates and Infants up to 3 months including with prenatally or postnatally confirmed urea cycle disorder with below listed deficiency and children aged > 3 months up to 5 years including with confirmed urea cycle disorder and unstable metabolism with deficiency of either: - Carbamyl-phosphate Synthetase I Deficiency (CPS1D) - Ornithine Transcarbamylase Deficiency (OTCD) - Argininosuccinate Synthetase Deficiency (ASSD/Citrullinaemia) can be included. MedDRA version: 18.1 Level: PT Classification code 10052450 Term: Ornithine transcarbamoylase deficiency System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 18.1 Level: PT Classification code 10058298 Term: Argininosuccinate synthetase deficiency System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 18.1 Level: PT Classification code 10058297 Term: Carbamoyl phosphate synthetase deficiency System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Human heterologous liver cells (for infusion) Product Code: HHLivC Pharmaceutical Form: Infusion | Cytonet GmbH & Co KG | Not Recruiting | Female: yes Male: yes | Germany | |||||
| 18 | NCT00345605 | February 2008 | 5 February 2018 | Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder | A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria | Argininosuccinic Aciduria;Amino Acid Metabolism, Inborn Errors;Urea Cycle Disorders | Drug: Sodium Phenylbutyrate;Drug: Arginine | Brendan Lee | Office of Rare Diseases (ORD);Rare Diseases Clinical Research Network;Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Not recruiting | 5 Years | N/A | All | 12 | Phase 2 | United States |
| 19 | NCT00004307 | December 1999 | 19 February 2015 | Study of Treatment and Metabolism in Patients With Urea Cycle Disorders | Therapeutic and Metabolic Studies of Urea Cycle Disorders: Part A: Nitrogen Flux and Ureagenesis; Part B (Closed): Phase I Adenovirus Vector-Mediated Gene Therapy for Ornithine Transcarbamylase Deficiency | Amino Acid Metabolism, Inborn Errors | Behavioral: Protein and calorie controlled diet;Genetic: Ornithine transcarbamylase vector | National Center for Research Resources (NCRR) | Baylor College of Medicine | Recruiting | 6 Months | 64 Years | Both | 66 | Phase 1 | United States |
| 20 | NCT00004386 | October 1995 | 19 February 2015 | Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency | Ornithine Transcarbamylase Deficiency Disease | Genetic: recombinant adenovirus containing the ornithine transcarbamylase gene | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Children's Research Institute | Not recruiting | 18 Years | 65 Years | Both | Phase 1 |