DDrare: Database of Drug Development for Rare Diseases

251. Urea cycle disorder
[ 20 clinical trials, 29 drugs（DrugBank: 9 drugs), 1 target gene / 1 target pathway ]

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.

Drug = 4-phenylbutyrate; Acetohydroxamic acid; Acetohydroxamic acid oral tablet [lithostat]; Arginine; Dtx301; Glyceryl tri-(4-phenylbutyrate); Glyceryl tri-(4-phenylbutyrate)(gt4p); Gt4p; Hepastem; Hepastem infusion; Heterologous human adult liver-derived progenitor cells; Hhlivc; Hpn-100; Human heterologous liver cells (for infusion); Isotopic intravenous [13c]-urea; Kb195; Mrt5201; Napba; Neo-asa; Nitric oxide; Nitric oxide supplement; Oral prednisone; Ornithine; Phenylbutyrate; Prednisone; Ravicti; Sodium phenylbutyrate; Synb1020; Urea

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