DDrare: Database of Drug Development for Rare Diseases

251. 尿素サイクル異常症
［臨床試験数：42，薬物数：45（DrugBank：10），標的遺伝子数：4，標的パスウェイ数：29］

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. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.

Drug = 4-phenylbutyrate; ALLOGENIC HUMAN HETEROLOGOUS LIVER CELLS; ARCT-810; ASA; Acetohydroxamic Acid; Acetohydroxamic Acid Oral Tablet [Lithostat]; Acetohydroxamic acid; Arginine; Behavioral: Protein and calorie controlled diet; Carglumic acid; Celulas hepatocitos troncales adultas alogenicas de higado expandidas; DTX301; GT4P; Genetic: Ornithine transcarbamylase vector; Genetic: recombinant adenovirus containing the ornithine transcarbamylase gene; Genetic: scAAV8OTC; Glyceryl tri-(4-phenylbutyrate); Glyceryl tri-(4-phenylbutyrate)(GT4P); HHALPC; HHLivC; HPN-100; HepaStem; HepaStem Infusion; Heparesc; Heterologous Human Adult Liver-derived Progenitor Cells; Heterologous Human Adult Liver-derived Progenitor Cells (HHALPC); Human Heterologous Liver Cells; 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; Promethera HepaStem; RAVICTI; Ravicti; SYNB1020; Sodium Phenylbutyrate; Urea

No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
1	NCT03335488 (ClinicalTrials.gov)	February 20, 2018	18/10/2017	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	NULL	Recruiting	N/A	99 Years	All	18	Phase 4	United States;Belgium;Italy;Spain;Switzerland
2	EUCTR2008-003865-23-GB (EUCTR)	08/09/2008	25/07/2008	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 INN or Proposed INN: NA Other descriptive name: glyceryl tri-(4-phenylbutyrate)	Hyperion Therapeutics Limited	NULL	Not Recruiting			Female: yes Male: yes	16	Phase 2	United Kingdom
3	NCT00345605 (ClinicalTrials.gov)	February 2008	26/6/2006	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)	Completed	5 Years	N/A	All	12	Phase 2	United States

No.

TrialID

Date_
enrollment

Date_
registration

Public_title

Scientific_title

Condition

Intervention

Primary_
sponsor

Secondary_
sponsor

Recruitment_
Status

Inclusion_
agemin

Inclusion_
agemax

Inclusion_
gender

Target_
size

Phase

Countries

NCT03335488
(ClinicalTrials.gov)

February 20, 2018

18/10/2017

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

NULL

Recruiting

N/A

99 Years

All

Phase 4

United States;Belgium;Italy;Spain;Switzerland

EUCTR2008-003865-23-GB
(EUCTR)

08/09/2008

25/07/2008

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
INN or Proposed INN: NA
Other descriptive name: glyceryl tri-(4-phenylbutyrate)

Hyperion Therapeutics Limited

NULL

Not Recruiting

Female: yes
Male: yes

Phase 2

United Kingdom

NCT00345605
(ClinicalTrials.gov)

February 2008

26/6/2006

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)

Completed

5 Years

N/A

All

Phase 2

United States