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 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.

Search in Page    e.g. "Phase 3", "Not recruiting", "Japan"    Synonyms (DrugBank) were also searched for.
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT03767270December 201930 September 2019Safety, Tolerability and PK/PD Evaluation of Intravenous Administration of MRT5201 in Patients With OTC DeficiencyA Phase 1/2 Single Ascending Dose Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intravenously Administered MRT5201 in Subjects With Ornithine Transcarbamylase DeficiencyOrnithine Transcarbamylase DeficiencyBiological: MRT5201;Other: PlaceboTranslate Bio, Inc.Not recruiting18 YearsN/AAll0Phase 1/Phase 2
2NCT03933410August 20199 September 2019UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle DisorderA 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 CareUrea Cycle DisorderDrug: KB195Kaleido BiosciencesRecruiting18 Years65 YearsAll24Phase 2United States
3NCT03884959July 12, 20181 April 2019A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric PatientsA Prospective, Open Label, Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric PatientsUrea Cycle DisorderBiological: HepaStem InfusionLIFELIVERRecruitingN/A12 YearsAll5Phase 2Korea, Republic of
4EUCTR2018-000156-18-ES18/06/201820 August 2018A 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 termA 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 DeficiencyOrnithine 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.AuthorisedFemale: yes
Male: yes
9Phase 1;Phase 2United States;Canada;Spain;United Kingdom
5NCT03335488February 20, 201822 October 2019Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle DisordersA 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 DisordersUrea Cycle DisorderDrug: RAVICTI;Drug: NaPBAHorizon Therapeutics, LLCRecruiting2 Months99 YearsAll30Phase 4United States;Belgium;Italy;Spain;Switzerland
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6NCT03064048September 15, 201730 September 2019Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLDEffect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD)Argininosuccinate Lyase Deficiency;Urea Cycle Disorder;Urea Cycle Disorders, Inborn;Argininosuccinic AciduriaDietary Supplement: Neo-ASA;Dietary Supplement: PlaceboBaylor College of MedicineRare Diseases Clinical Research Network;Neogenis LaboratoriesRecruiting6 Years50 YearsAll16N/AUnited States
7NCT03179878June 16, 201711 June 2018Safety and Tolerability of SYNB1020-CP-001A 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 PharmacodynamicsHealthy Volunteer;Urea Cycle DisorderDrug: Placebo;Drug: SYNB1020SynlogicNot recruiting18 Years64 YearsAll52Phase 1United States
8NCT03181828March 24, 201715 April 2019Manipulating the Gut Microbiome StudyManipulating the Gut Microbiome StudyUrea Cycle DisorderDrug: Acetohydroxamic Acid Oral Tablet [Lithostat]Nicholas Ah MewNot recruiting18 Years60 YearsAll4Phase 1/Phase 2United States
9NCT02991144January 201711 November 2019Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC DeficiencyA 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 DeficiencyOrnithine Transcarbamylase (OTC) DeficiencyGenetic: scAAV8OTC;Drug: Oral prednisoneUltragenyx Pharmaceutical IncRecruiting18 YearsN/AAll15Phase 1/Phase 2United States;Canada;Spain;United Kingdom
10NCT02670889November 20165 September 2016Urease Inhibitor Drug Treatment for Urea Cycle DisordersManipulating the Gut Microbiome in Urea Cycle DisordersOrnithine Transcarbamylase Deficiency;Argininosuccinate Synthetase Deficiency (Citrullinemia);Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria);Carbamyl-Phosphate Synthase I DeficiencyDrug: Acetohydroxamic Acid;Drug: Isotopic Intravenous [13C]-UreaNicholas Ah MewData Management and Coordinating Center (DMCC);Children's Hospital of PhiladelphiaNot recruiting18 Years60 YearsBoth16Phase 1/Phase 2
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11NCT02246218December 201416 December 2017A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle DisordersAn 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 DisorderDrug: RAVICTIHorizon Therapeutics, LLCNot recruitingN/A2 YearsAll27Phase 4United States;Canada
12EUCTR2014-000650-11-BE15/09/201428 September 2015HEP002 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. - HEP002The 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 BiosciencesAuthorisedFemale: yes
Male: yes
20Spain;Belgium
13NCT02252770September 201429 January 2018Nitric Oxide Supplementation in Argininosuccinic AciduriaNitric Oxide Supplementation as a Therapeutic Intervention in Argininosuccinic AciduriaArgininosuccinic Aciduria;Argininosuccinate Lyase Deficiency;Urea Cycle DisordersDietary Supplement: Nitric oxide supplement;Dietary Supplement: PlaceboBaylor College of MedicineRecruiting8 Years64 YearsAll12N/AUnited States
14EUCTR2013-001045-14-BE22/04/20132 October 2017A 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. - SAF001Crigler-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 BiosciencesNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2Portugal;Belgium;United Kingdom;Italy
15EUCTR2011-004074-28-GB20/07/20124 August 2015A 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 patientsA 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 - UKHEP001Crigler-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 BiosciencesNot RecruitingFemale: yes
Male: yes
21Phase 1/2United Kingdom;Italy;Belgium
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
16EUCTR2008-003865-23-GB08/09/200814 August 2012A 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 DisordersA 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 DisordersUrea 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 LimitedNot RecruitingFemale: yes
Male: yes
16Phase 2United Kingdom
17EUCTR2006-000136-27-DE17/03/200818 April 2016Open, 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 KGNot RecruitingFemale: yes
Male: yes
Germany
18NCT00345605February 20085 February 2018Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle DisorderA 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 AciduriaArgininosuccinic Aciduria;Amino Acid Metabolism, Inborn Errors;Urea Cycle DisordersDrug: Sodium Phenylbutyrate;Drug: ArginineBrendan LeeOffice of Rare Diseases (ORD);Rare Diseases Clinical Research Network;Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Not recruiting5 YearsN/AAll12Phase 2United States
19NCT00004307December 199919 February 2015Study of Treatment and Metabolism in Patients With Urea Cycle DisordersTherapeutic 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 DeficiencyAmino Acid Metabolism, Inborn ErrorsBehavioral: Protein and calorie controlled diet;Genetic: Ornithine transcarbamylase vectorNational Center for Research Resources (NCRR)Baylor College of MedicineRecruiting6 Months64 YearsBoth66Phase 1United States
20NCT00004386October 199519 February 2015Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase DeficiencyOrnithine Transcarbamylase Deficiency DiseaseGenetic: recombinant adenovirus containing the ornithine transcarbamylase geneEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Children's Research InstituteNot recruiting18 Years65 YearsBothPhase 1

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