251. 尿素サイクル異常症 Urea cycle disorder Clinical trials / Disease details


臨床試験数 : 48 薬物数 : 52 - (DrugBank : 13) / 標的遺伝子数 : 4 - 標的パスウェイ数 : 29

  
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1EUCTR2021-001081-38-ES
(EUCTR)
12/01/202231/08/2021A Multi-dose Study of an Investigational Treatment to Evaluate Safety, Tolerability, and Ability to Improve Urea Cycle Function in Adolescents and Adults with Ornithine Transcarbamylase DeficiencyPhase 2, Randomized, Double-Blind, Placebo-Controlled, Nested Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability and Pharmacokinetics of ARCT-810 in Adolescent and Adult Participants with Ornithine Transcarbamylase Deficiency - Phase 2 nested single/multiple ascending dose study of ARCT-810 in Participants with OTC Deficiency Ornithine transcarbamylase deficiency
MedDRA version: 21.1;Level: LLT;Classification code 10013373;Term: Disorders of urea cycle metabolism;System Organ Class: 200000003094;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: ARCT-810
Product Code: ARCT-810
INN or Proposed INN: Not assigned
Other descriptive name: mRNA encoding modified Ornithine transcarbamylase
Arcturus Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 2Belgium;Spain;United Kingdom
2EUCTR2021-000824-36-ES
(EUCTR)
09/12/202111/06/2021An open-label, controlled, multi-site, Phase I clinical trial to assess the ureagenesis capacity in newborns and infants up to the age of 12 months with neonatal and infantile onset of urea cycle disorders (UCD) using a 15N ammonium chloride tracer compared to newborns and infants without UCD. - 15N ammonium chloride ureagenesis validation clinical trial An open-label, controlled, multi-site, Phase I clinical trial to assess the ureagenesis capacity in newborns and infants up to the age of 12 months with neonatal and infantile onset of urea cycle disorders (UCD) using a 15N ammonium chloride tracer compared to newborns and infants without UCD. - 15N ammonium chloride ureagenesis validation clinical trial Subject has a genetically confirmed diagnosis of any of the following urea cycle disorders: ASS, CPS1, ASL, OTC Subjects without UCD can have other stable illness that not interfere with the clinical trial according to the investigator judgement
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: 15N ammonium chloride (15NH4Cl)
INN or Proposed INN: Ammonium (15N) chloride
Other descriptive name: Ammonium (15N) chloride
Unicyte AGNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
30Phase 1Portugal;Czechia;Saudi Arabia;Spain;Turkey;Austria;Israel;United Kingdom;Italy;Switzerland;France;Belgium;Poland;Germany;Netherlands
3NCT05076318
(ClinicalTrials.gov)
March 1, 202126/8/2021Dysregulated Urea-synthesis at Terminal UremiaDysregulated Urea-synthesis at Terminal UremiaUrea Cycle Disorder;UremiaOther: Aminoacid, alanine-infusionUniversity of AarhusNULLRecruiting18 YearsN/AAll16N/ADenmark
4NCT04442347
(ClinicalTrials.gov)
November 3, 202019/6/2020Safety, Tolerability, and Pharmacokinetics of ARCT-810 in Stable Adult Subjects With Ornithine Transcarbamylase DeficiencyA Phase 1b Randomized, Double Blinded, Placebo Controlled, Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of Single Doses of ARCT-810 in Clinically Stable Patients With Ornithine Transcarbamylase DeficiencyOrnithine Transcarbamylase DeficiencyBiological: ARCT-810;Other: PlaceboArcturus Therapeutics, Inc.NULLRecruiting18 YearsN/AAll12Phase 1United States
5EUCTR2018-000156-18-FR
(EUCTR)
02/11/202031/01/2020A 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 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
INN or Proposed INN: Not yet assigned
Other descriptive name: DTX301
Ultragenyx Pharmaceutical, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
18Phase 1;Phase 2United States;France;Canada;Spain;United Kingdom
6NCT04416126
(ClinicalTrials.gov)
June 1, 202028/5/2020Safety, Tolerability and Pharmacokinetics of ARCT-810 in Healthy Adult SubjectsA Phase 1 Randomized, Double Blinded, Placebo Controlled, Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of Single Doses of ARCT-810 in Healthy Adult SubjectsOrnithine Transcarbamylase DeficiencyBiological: ARCT-810;Other: PlaceboArcturus Therapeutics, Inc.NULLRecruiting18 Years65 YearsAll30Phase 1New Zealand
7EUCTR2018-004842-40-FR
(EUCTR)
14/01/202018/11/2019International multicenter study to test the efficacy and safety of a new drug, KB195, in subjects with Urea Cycle Disorder with an inadequate control of the disease with current standard drugs.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 Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: KB195
Product Code: KB195
INN or Proposed INN: KB195
Kaleido BiosciencesNULLNot RecruitingFemale: yes
Male: yes
29Phase 2United States;France;Saudi Arabia;Mexico;Canada;Spain;Belgium;Turkey;Netherlands;Germany;United Kingdom;Switzerland
8NCT03767270
(ClinicalTrials.gov)
December 201928/11/2018Safety, 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.NULLWithdrawn18 YearsN/AAll0Phase 1/Phase 2NULL
9EUCTR2018-004842-40-DE
(EUCTR)
25/11/201904/06/2019International multicenter study to test the efficacy and safety of a new drug, KB195, in subjects with Urea Cycle Disorder with an inadequate control of the disease with current standard drugs.A Phase 2, Open-label Study to Evaluate the Efficacy and Safety of KB195 in Subjects witha Urea Cycle Disorder with Inadequate Control on Standard of Care Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: KB195
Product Code: KB195
INN or Proposed INN: KB195
Kaleido BiosciencesNULLNot RecruitingFemale: yes
Male: yes
29Phase 2United States;France;Saudi Arabia;Mexico;Canada;Spain;Belgium;Turkey;Netherlands;Germany;United Kingdom;Switzerland
10EUCTR2018-004842-40-ES
(EUCTR)
06/11/201911/06/2019International multicenter study to test the efficacy and safety of a new drug, KB195, in subjects with Urea Cycle Disorder with an inadequate control of the disease with current standard drugs.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 Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: KB195
Product Code: KB195
INN or Proposed INN: KB195
Kaleido BiosciencesNULLNot RecruitingFemale: yes
Male: yes
29Phase 2United States;France;Saudi Arabia;Mexico;Canada;Belgium;Spain;Turkey;Netherlands;Germany;United Kingdom;Switzerland
11NCT03933410
(ClinicalTrials.gov)
September 17, 201929/4/2019UNLOCKED: 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 BiosciencesNULLTerminated18 Years65 YearsAll13Phase 2United States;Belgium;Germany;Spain;Switzerland;Turkey;United Kingdom;Mexico
12EUCTR2018-004842-40-GB
(EUCTR)
30/08/201922/10/2020International multicenter study to test the efficacy and safety of a new drug, KB195, in subjects with Urea Cycle Disorder with an inadequate control of the disease with current standard drugs.A Phase 2, Open-label Study to Evaluate the Efficacy and Safety of KB195 in Subjects witha Urea Cycle Disorder with Inadequate Control on Standard of Care - Kaleido K020-218 Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: KB195
Product Code: KB195
INN or Proposed INN: KB195
Kaleido BiosciencesNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
29Phase 1;Phase 2United States;France;Saudi Arabia;Mexico;Canada;Spain;Belgium;Turkey;Germany;Switzerland;United Kingdom
13EUCTR2018-004842-40-BE
(EUCTR)
21/08/201928/05/2019International multicenter study to test the efficacy and safety of a new drug, KB195, in subjects with Urea Cycle Disorder with an inadequate control of the disease with current standard drugs.A Phase 2, Open-label Study to Evaluate the Efficacy and Safety of KB195 in Subjects witha Urea Cycle Disorder with Inadequate Control on Standard of Care Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: KB195
Product Code: KB195
INN or Proposed INN: KB195
Kaleido BiosciencesNULLNot RecruitingFemale: yes
Male: yes
29Phase 2United States;France;Saudi Arabia;Mexico;Canada;Spain;Belgium;Turkey;Germany;United Kingdom;Switzerland
14JPRN-jRCTs041190055
24/07/201924/07/2019Carglumic Acid Administration for OTC DeficienscyA Clinical Study of Carglumic Acid in Patients with Late-Onset Ornithine Transcarbamylase Deficiency ornitine transcarbamylase deficiency patientsadministraton of carglumic acidIto TetsuyaNULLCompleteNot applicable< 75age oldBoth2Phase 4Japan
15EUCTR2018-000156-18-GB
(EUCTR)
15/08/201802/05/2018A 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 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
INN or Proposed INN: Not yet assigned
Other descriptive name: DTX301
Ultragenyx Pharmaceutical, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
18Phase 1;Phase 2United States;Canada;Spain;United Kingdom
16NCT03884959
(ClinicalTrials.gov)
July 12, 20183/3/2019A 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 InfusionHLB Cell Co., Ltd.NULLWithdrawnN/A12 YearsAll0Phase 2Korea, Republic of
17EUCTR2018-000156-18-ES
(EUCTR)
18/06/201814/05/2018A 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 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
INN or Proposed INN: Not yet assigned
Other descriptive name: DTX301
Ultragenyx Pharmaceutical, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
9Phase 1;Phase 2United States;Canada;Spain;United Kingdom
18NCT03335488
(ClinicalTrials.gov)
February 20, 201818/10/2017Study 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, LLCNULLRecruitingN/A99 YearsAll18Phase 4United States;Belgium;Italy;Spain;Switzerland
19NCT03064048
(ClinicalTrials.gov)
September 15, 201710/2/2017Nitric 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
20NCT03179878
(ClinicalTrials.gov)
June 16, 20176/6/2017Safety 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: SYNB1020SynlogicNULLCompleted18 Years64 YearsAll52Phase 1United States
21NCT03181828
(ClinicalTrials.gov)
March 24, 20171/6/2017Manipulating the Gut Microbiome StudyManipulating the Gut Microbiome StudyUrea Cycle DisorderDrug: Acetohydroxamic Acid Oral Tablet [Lithostat]Nicholas Ah MewNULLTerminated18 Years60 YearsAll4Phase 1/Phase 2United States
22EUCTR2016-001057-40-GB
(EUCTR)
14/03/201715/12/2016An early-phase clinical study of a virus transferring the gene for human Ornithine Transcarbamylase (OTC) 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 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
INN or Proposed INN: Not yet assigned
Other descriptive name: DTX301
Ultragenyx Pharmaceutical, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
18 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Canada;Spain;United Kingdom
23EUCTR2016-001057-40-ES
(EUCTR)
08/03/201727/12/2016An early-phase clinical study of a virus transferring the gene for human Ornithine Transcarbamylase (OTC) 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 deficiency
MedDRA version: 19.0;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
INN or Proposed INN: Not yet assigned
Other descriptive name: DTX301
Dimension Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
12Phase 1;Phase 2France;United States;Canada;Spain;United Kingdom
24NCT02991144
(ClinicalTrials.gov)
January 20179/12/2016Safety 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 IncNULLCompleted18 YearsN/AAll11Phase 1/Phase 2United States;Canada;Spain;United Kingdom
25NCT02670889
(ClinicalTrials.gov)
November 201614/1/2016Urease 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 yet recruiting18 Years60 YearsBoth16Phase 1/Phase 2NULL
26EUCTR2014-000650-11-PL
(EUCTR)
11/12/201501/10/2015HEP002 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.HEP002: A prospective, open label, multi-country, 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 five 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].
MedDRA version: 19.0;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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
20Phase 2France;Spain;Belgium;Poland
27EUCTR2014-000650-11-ES
(EUCTR)
13/04/201520/10/2014HEP002 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, multi-country, multicenter, efficacy and safety study of several infusions of Promethera HepaStem in Urea Cycle Disorders pediatric patients The urea cycle disorders are inborn errors of metabolism that affect the transfer of nitrogen into urea. There are eight disorders: N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, citrullinemia type I, argininosuccinic aciduria, argininemia, HHH syndrme and citrullinemia type II.Mutations in each of the enzymes have been identified, resulting in failed production of urea, the end product of the urea cycle.
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
INN or Proposed INN: Celulas hepatocitos troncales adultas alogenicas de higado expandidas
Promethera BiosciencesNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Belgium;Spain
28EUCTR2014-000650-11-FR
(EUCTR)
18/02/201526/06/2015HEP002 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, multicenter, efficacy and safety study of several infusions of Promethera 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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
20Phase 2France;Poland;Spain;Belgium
29NCT02246218
(ClinicalTrials.gov)
December 31, 201417/9/2014A 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, LLCNULLCompletedN/A2 YearsAll27Phase 4United States;Canada
30EUCTR2014-000650-11-BE
(EUCTR)
15/09/201401/07/2014HEP002 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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
20Phase 2France;Poland;Spain;Belgium
31NCT02252770
(ClinicalTrials.gov)
September 201425/9/2014Nitric 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 MedicineNULLCompleted8 Years64 YearsAll12N/AUnited States
32EUCTR2013-001045-14-GB
(EUCTR)
30/07/201428/04/2014A long-term safety follow-up study of patients having received infusions of HepaStem.SAF 001: A long-term safety follow-up study of patients 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 UCD are inborn errors of metabolism that affect the transfer of nitrogen into urea. There are 8 disorders: N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, citrullinemia I&II, argininosuccinic aciduria, HHH syndrome & argininemia
MedDRA version: 19.0;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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Other descriptive name: NA
Promethera BiosciencesNULLNot Recruiting Female: yes
Male: yes
19 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noPortugal;Belgium;Italy;United Kingdom
33EUCTR2013-001045-14-PT
(EUCTR)
04/04/201402/10/2013A 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 UCD are inborn errors of metabolism that affect the transfer of nitrogen into urea. There are 8 disorders: N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, citrullinemia I&II, argininosuccinic aciduria, HHH syndrome & argininemia
MedDRA version: 16.0;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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Other descriptive name: NA
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
21Phase 1;Phase 2Portugal;Belgium;Israel;United Kingdom;Italy
34EUCTR2013-001045-14-IT
(EUCTR)
14/02/201431/12/2013A clinical study for evaluating long-term safety of patients having received infusions of HepaStem.SAF 001: A long-term safety follow-up study of patients 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 UCD are inborn errors of metabolism that affect the transfer of nitrogen into urea. Thereare 8 disorders: N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, citrullinemia I&II, argininosuccinic aciduria, HHH syndrome & argininemia
MedDRA version: 16.1;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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Other descriptive name: NA
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
21Phase 1;Phase 2Portugal;Belgium;Israel;United Kingdom;Italy
35EUCTR2013-001045-14-BE
(EUCTR)
22/04/201319/03/2013A 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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Other descriptive name: NA
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2Portugal;Belgium;United Kingdom;Italy
36EUCTR2011-004074-28-IT
(EUCTR)
19/12/201214/01/2013A 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, partially randomized, safety study of one cycle of Promethera HepaStem in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients - HEP 001 Crigle-Najjar syndrome is associated with a complete or partial hepatic deficit of bilirubin glucoronosyltransferase 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 desorders: N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthase I deficiency, Ornithine transcarbamylase deficiency, citrullinemia, argininosuccinic aciduria and argininemia.
MedDRA version: 15.1;Level: LLT;Classification code 10013373;Term: Disorders of urea cycle metabolism;System Organ Class: 100000004861
MedDRA version: 15.1;Level: PT;Classification code 10011386;Term: Crigler-Najjar syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 15.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;Classification code 10021601;Term: Inborn error of metabolism NOS;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Promethera HepaStem
Product Code: HHALPC
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells (HHALPC)
PROMETHERA BIOSCIENCESNULLNot RecruitingFemale: yes
Male: yes
18Phase 1/2Belgium;United Kingdom;Italy
37EUCTR2011-004074-28-GB
(EUCTR)
20/07/201228/09/2011A 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 - 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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Other descriptive name: NA
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
21Phase 1/2Belgium;Italy;United Kingdom
38EUCTR2011-004074-28-BE
(EUCTR)
13/02/201221/02/2012A phase I/II trial for evaluating safety of one cycle of Promethera HepaStem in Urea Cycle Disorders and Crigler-Najjar Syndrome patientsHEP 001: A prospective, open label, multicenter, partially randomized, safety study of one cycle of Promethera HepaStem in Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) paediatric patients. - HEP 001 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: 14.1;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
INN or Proposed INN: Heterologous Human Adult Liver-derived Progenitor Cells
Other descriptive name: NA
Promethera BiosciencesNULLNot RecruitingFemale: yes
Male: yes
21Phase 1/2Belgium;Italy;United Kingdom
39EUCTR2008-003865-23-GB
(EUCTR)
08/09/200825/07/2008A 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 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
INN or Proposed INN: NA
Other descriptive name: glyceryl tri-(4-phenylbutyrate)
Hyperion Therapeutics LimitedNULLNot RecruitingFemale: yes
Male: yes
16Phase 2United Kingdom
40NCT00718627
(ClinicalTrials.gov)
July 200816/7/2008Human Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersOpen, 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)Urea Cycle Disorders;Carbamoylphosphate Synthetase I Deficiency;Ornithine Transcarbamylase Deficiency;CitrullinemiaBiological: Human Heterologous Liver CellsCytonet GmbH & Co. KGNULLCompletedN/A5 YearsBoth12Phase 2Germany
41EUCTR2006-000136-27-DE
(EUCTR)
17/03/200804/09/2007Open, 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;Classification code 10058298;Term: Argininosuccinate synthetase deficiency;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
Cytonet GmbH & Co KGNULLNot RecruitingFemale: yes
Male: yes
Germany
42NCT00345605
(ClinicalTrials.gov)
February 200826/6/2006Arginine 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)Completed5 YearsN/AAll12Phase 2United States
43NCT00004307
(ClinicalTrials.gov)
December 199918/10/1999Study 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
44NCT00004386
(ClinicalTrials.gov)
October 199518/10/1999Phase 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 InstituteTerminated18 Years65 YearsBothPhase 1NULL
45EUCTR2021-000824-36-BE
(EUCTR)
01/10/2021Clinical trial assessing urea formation capacity in babies up to 12 months old using 15N ammonium chloride tracerAn open-label, controlled, multi-site, Phase I clinical trial to assess the ureagenesis capacity in newborns and infants up to the age of 12 months with neonatal and infantile onset of urea cycle disorders (UCD) using a 15N ammonium chloride tracer compared to newborns and infants without UCD. - 15N ammonium chloride ureagenesis validation clinical trial Subject has a genetically confirmed diagnosis of any of the following urea cycle disorders: ASS, CPS1, ASL, OTC Subjects without UCD can have other stable illness that not interfere with the clinical trial according to the investigator judgement
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: 15N ammonium chloride (15NH4Cl)
INN or Proposed INN: Ammonium (15N) chloride
Other descriptive name: Ammonium (15N) chloride
Unicyte AGNULLNAFemale: yes
Male: yes
30Phase 1France;Saudi Arabia;Spain;Belgium;Turkey;Austria;Israel;Germany;United Kingdom;Switzerland;Italy
46EUCTR2021-001081-38-BE
(EUCTR)
26/08/2021Phase 2, Randomized, Double-Blind, Placebo-Controlled, Nested Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability and Pharmacokinetics of ARCT-810 in Adolescent and Adult Participants with Ornithine Transcarbamylase DeficiencyPhase 2, Randomized, Double-Blind, Placebo-Controlled, Nested Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability and Pharmacokinetics of ARCT-810 in Adolescent and Adult Participants with Ornithine Transcarbamylase Deficiency - Phase 2 nested single/multiple ascending dose study of ARCT-810 in Participants with OTC Deficiency Ornithine transcarbamylase deficiency
MedDRA version: 21.1;Level: LLT;Classification code 10013373;Term: Disorders of urea cycle metabolism;System Organ Class: 200000003094;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: ARCT-810
Product Code: ARCT-810
INN or Proposed INN: Not assigned
Other descriptive name: mRNA encoding modified Ornithine transcarbamylase
Arcturus Therapeutics, Inc.NULLNAFemale: yes
Male: yes
24Phase 2Belgium;United Kingdom
47EUCTR2021-000824-36-AT
(EUCTR)
29/07/2021Clinical trial assessing urea formation capacity in babies up to 12 months old using 15N ammonium chloride tracerAn open-label, controlled, multi-site, Phase I clinical trial to assess the ureagenesis capacity in newborns and infants up to the age of 12 months with neonatal and infantile onset of urea cycle disorders (UCD) using a 15N ammonium chloride tracer compared to newborns and infants without UCD. - 15N ammonium chloride ureagenesis validation clinical trial Subject has a genetically confirmed diagnosis of any of the following urea cycle disorders: ASS, CPS1, ASL, OTC Subjects without UCD can have other stable illness that not interfere with the clinical trial according to the investigator judgement
MedDRA version: 20.1;Level: PT;Classification code 10080020;Term: Urea cycle disorder;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: 15N ammonium chloride (15NH4Cl)
INN or Proposed INN: Ammonium (15N) chloride
Other descriptive name: Ammonium (15N) chloride
Unicyte AGNULLNAFemale: yes
Male: yes
30Phase 1France;Saudi Arabia;Spain;Belgium;Turkey;Austria;Israel;Germany;United Kingdom;Switzerland;Italy
48EUCTR2015-000988-14-Outside-EU/EEA
(EUCTR)
12/10/2016Human Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersTitle: Open, Prospective, Historic-Controlled, Multicenter Study toEvaluate the Safety and Efficacy of Infusion of Liver Cell Suspension(HHLivC) in Children with Urea Cycle Disorders Neonatal-onset type of the following urea cycle disorders(UCD):ornithine transcarbamylase deficiency (OTCD),carbamoylphosphate synthetase I deficiency (CPS1D), orargininosuccinate synthetase deficiency (ASSD orcitrullinemia);Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Heparesc
Product Code: HHLivC
INN or Proposed INN: not available
Other descriptive name: ALLOGENIC HUMAN HETEROLOGOUS LIVER CELLS
PROMETHERA Biosciences S.A./N.V.NULLNAFemale: yes
Male: yes
21Phase 2United States;Canada