337. ホモシスチン尿症 Homocystinuria Clinical trials / Disease details


臨床試験数 : 13 薬物数 : 13 - (DrugBank : 4) / 標的遺伝子数 : 2 - 標的パスウェイ数 : 23

  
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PhaseCountries
1NCT04015557
(ClinicalTrials.gov)
February 11, 202228/5/2019Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on HomocystinuriaFunctional Consequences and Therapeutic Intervention in Hampered Production of Cysteine, Glutathione and Taurine in Classical HomocystinuriaCBS DeficiencyDrug: Acetaminophen;Drug: N-acetylcysteineHospital de Clinicas de Porto AlegreFundação de Amparo à Pesquisa do Estado do Rio Grande do Sul, BrazilSuspended18 Years65 YearsAll10Phase 1/Phase 2Brazil
2NCT05154890
(ClinicalTrials.gov)
May 13, 202120/8/2021A Multiple Ascending Dose Study of ACN00177 in Subjects With CBS DeficiencyA Phase 1/2 Multiple Ascending-Dose Study in Subjects With Homocystinuria Due to Cystathionine ß-Synthase (CBS) Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of ACN00177Homocystinuria Due to Cystathionine Beta-Synthase DeficiencyDrug: ACN00177Aeglea BiotherapeuticsNULLRecruiting12 YearsN/AAll25Phase 1/Phase 2Australia;United Kingdom
3EUCTR2019-004791-19-GB
(EUCTR)
11/05/202014/01/2020A Phase 1/2 Study of ACN00177 in Subjects With Homocystinuria Due to Cystathionine ß-Synthase (CBS) DeficiencyA Phase 1/2 Multiple Ascending-Dose Study in Subjects With Homocystinuria Due to Cystathionine ß-Synthase (CBS) Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of ACN00177 - SA notification 100D New site and PI Homocystinuria Due to Cystathionine ß-Synthase (CBS) Deficiency
MedDRA version: 20.0;Level: PT;Classification code 10020365;Term: Homocystinuria;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Code: ACN00177Aeglea Biotherapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
25Phase 1United Kingdom
4NCT03406611
(ClinicalTrials.gov)
January 22, 20195/12/2017Pegtibatinase as an Enzyme Therapy for Patients With Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)A Double Blind, Randomized, Placebo-controlled, Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Effects on Clinical Outcomes of Pegtibatinase (TVT-058), Administered Subcutaneously in Patients With Cystathionine Beta-Synthase Deficient Homocystinuria (COMPOSE)HomocystinuriaDrug: Pegtibatinase;Drug: PlaceboOrphan Technologies LtdTravere Therapeutics, Inc.Recruiting12 Years65 YearsAll40Phase 1/Phase 2United States
5NCT02404337
(ClinicalTrials.gov)
July 20156/3/2015Betaine METABOLISM OF PATIENTS With HomocystinuriaBetaine METABOLISM OF PATIENTS With HomocystinuriaHomocystinuriaDrug: BetaineAssistance Publique - Hôpitaux de ParisNULLCompleted1 Year18 YearsAll12Phase 2France
6NCT01793090
(ClinicalTrials.gov)
January 20138/2/2013EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentPhase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C DefectMethylmalonic Aciduria and Homocystinuria,Cblc Type;Genetic Disease;RetinopathyDrug: Epi-743;Other: Placebo supplementationBambino Gesù Hospital and Research InstituteCatholic University of the Sacred HeartCompleted1 Year20 YearsAll30Phase 2Italy
7NCT01192828
(ClinicalTrials.gov)
January 201030/8/2010Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineOxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineHomocystinuriaDrug: taurineUniversity of Colorado, DenverNULLCompleted8 Years49 YearsAll15Phase 1/Phase 2United States
8NCT00483314
(ClinicalTrials.gov)
November 20075/6/2007Homocystinuria: Treatment With N-AcetylcysteineHomocystinuria: Treatment With N-AcetylcysteineHomocystinuriaDrug: N-acetylcysteineMcGill University Health CenterMarch of DimesCompleted18 YearsN/ABoth5Phase 2Canada
9EUCTR2006-000614-21-AT
(EUCTR)
09/08/200716/06/2006A multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuriaA multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuria homocystinuria
MedDRA version: 8.1;Level: pref;Classification code 10020365
Product Name: Prefolic
INN or Proposed INN: 5-MTHF
Other descriptive name: IUPAC name: 2-[4-[(2-amino-5-methyl-4-oxo-1,6,7,8-tetrahydropteridin-6-yl)methylam ino]benzoyl]amino
Zambon Group S.p.ANULLNot RecruitingFemale: yes
Male: yes
22Hungary;United Kingdom;Italy;Austria
10EUCTR2006-000614-21-IT
(EUCTR)
11/12/200605/10/2007A multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuria - NDA multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuria - ND Homocystinuria
MedDRA version: 6.1;Level: PT;Classification code 10020365
Trade Name: PREFOLIC 15*30CPR GASTROR 15MG
INN or Proposed INN: Detoxifying agents for antineoplastic treatment
ZAMBON GROUPNULLNot RecruitingFemale: yes
Male: yes
22Hungary;United Kingdom;Italy;Austria
11EUCTR2006-000614-21-HU
(EUCTR)
13/11/200615/08/2006A multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuriaA multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuria homocystinuria
MedDRA version: 8.1;Level: pref;Classification code 10020365
Product Name: Prefolic
INN or Proposed INN: 5-MTHF
Other descriptive name: IUPAC name: 2-[4-[(2-amino-5-methyl-4-oxo-1,6,7,8-tetrahydropteridin-6-yl)methylam ino]benzoyl]amino
Zambon Group S.p.ANULLNot RecruitingFemale: yes
Male: yes
22Phase 2Hungary;Slovakia;Austria;United Kingdom
12EUCTR2006-000614-21-GB
(EUCTR)
13/10/200620/09/2006A multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuriaA multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuria homocystinuria
MedDRA version: 8.1;Level: pref;Classification code 10020365
Trade Name: Prefolic
INN or Proposed INN: 5-MTHF
Other descriptive name: IUPAC name: 2-[4-[(2-amino-5-methyl-4-oxo-1,6,7,8-tetrahydropteridin-6-yl)methylam ino]benzoyl]amino
Zambon Group S.p.ANULLNot RecruitingFemale: yes
Male: yes
22Hungary;United Kingdom;Italy;Austria
13EUCTR2006-000614-21-SK
(EUCTR)
20/09/200612/07/2006A multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuriaA multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuria homocystinuria
MedDRA version: 8.1;Level: pref;Classification code 10020365
Product Name: Prefolic
INN or Proposed INN: 5-MTHF
Other descriptive name: IUPAC name: 2-[4-[(2-amino-5-methyl-4-oxo-1,6,7,8-tetrahydropteridin-6-yl)methylam ino]benzoyl]amino
Zambon Group S.p.ANULLNot RecruitingFemale: yes
Male: yes
22Phase 2Hungary;Slovakia;Austria;United Kingdom