337. Homocystinuria Clinical trials / Disease details
Clinical trials : 13 / Drugs : 13 - (DrugBank : 4) / Drug target genes : 2 - Drug target pathways : 23
| 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 | NCT04015557 (ClinicalTrials.gov) | February 11, 2022 | 28/5/2019 | Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria | Functional Consequences and Therapeutic Intervention in Hampered Production of Cysteine, Glutathione and Taurine in Classical Homocystinuria | CBS Deficiency | Drug: Acetaminophen;Drug: N-acetylcysteine | Hospital de Clinicas de Porto Alegre | Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul, Brazil | Suspended | 18 Years | 65 Years | All | 10 | Phase 1/Phase 2 | Brazil |
| 2 | NCT05154890 (ClinicalTrials.gov) | May 13, 2021 | 20/8/2021 | A Multiple Ascending Dose Study of ACN00177 in Subjects With CBS Deficiency | A 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 | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Drug: ACN00177 | Aeglea Biotherapeutics | NULL | Recruiting | 12 Years | N/A | All | 25 | Phase 1/Phase 2 | Australia;United Kingdom |
| 3 | EUCTR2019-004791-19-GB (EUCTR) | 11/05/2020 | 14/01/2020 | A Phase 1/2 Study of ACN00177 in Subjects With Homocystinuria Due to Cystathionine ß-Synthase (CBS) Deficiency | A 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: ACN00177 | Aeglea Biotherapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 25 | Phase 1 | United Kingdom | ||
| 4 | NCT03406611 (ClinicalTrials.gov) | January 22, 2019 | 5/12/2017 | Pegtibatinase 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) | Homocystinuria | Drug: Pegtibatinase;Drug: Placebo | Orphan Technologies Ltd | Travere Therapeutics, Inc. | Recruiting | 12 Years | 65 Years | All | 40 | Phase 1/Phase 2 | United States |
| 5 | NCT02404337 (ClinicalTrials.gov) | July 2015 | 6/3/2015 | Betaine METABOLISM OF PATIENTS With Homocystinuria | Betaine METABOLISM OF PATIENTS With Homocystinuria | Homocystinuria | Drug: Betaine | Assistance Publique - Hôpitaux de Paris | NULL | Completed | 1 Year | 18 Years | All | 12 | Phase 2 | France |
| 6 | NCT01793090 (ClinicalTrials.gov) | January 2013 | 8/2/2013 | EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment | Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect | Methylmalonic Aciduria and Homocystinuria,Cblc Type;Genetic Disease;Retinopathy | Drug: Epi-743;Other: Placebo supplementation | Bambino Gesù Hospital and Research Institute | Catholic University of the Sacred Heart | Completed | 1 Year | 20 Years | All | 30 | Phase 2 | Italy |
| 7 | NCT01192828 (ClinicalTrials.gov) | January 2010 | 30/8/2010 | Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine | Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine | Homocystinuria | Drug: taurine | University of Colorado, Denver | NULL | Completed | 8 Years | 49 Years | All | 15 | Phase 1/Phase 2 | United States |
| 8 | NCT00483314 (ClinicalTrials.gov) | November 2007 | 5/6/2007 | Homocystinuria: Treatment With N-Acetylcysteine | Homocystinuria: Treatment With N-Acetylcysteine | Homocystinuria | Drug: N-acetylcysteine | McGill University Health Center | March of Dimes | Completed | 18 Years | N/A | Both | 5 | Phase 2 | Canada |
| 9 | EUCTR2006-000614-21-AT (EUCTR) | 09/08/2007 | 16/06/2006 | A 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 | A 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.A | NULL | Not Recruiting | Female: yes Male: yes | 22 | Hungary;United Kingdom;Italy;Austria | |||
| 10 | EUCTR2006-000614-21-IT (EUCTR) | 11/12/2006 | 05/10/2007 | A 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 | A 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 GROUP | NULL | Not Recruiting | Female: yes Male: yes | 22 | Hungary;United Kingdom;Italy;Austria | |||
| 11 | EUCTR2006-000614-21-HU (EUCTR) | 13/11/2006 | 15/08/2006 | A 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 | A 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.A | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 2 | Hungary;Slovakia;Austria;United Kingdom | ||
| 12 | EUCTR2006-000614-21-GB (EUCTR) | 13/10/2006 | 20/09/2006 | A 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 | A 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.A | NULL | Not Recruiting | Female: yes Male: yes | 22 | Hungary;United Kingdom;Italy;Austria | |||
| 13 | EUCTR2006-000614-21-SK (EUCTR) | 20/09/2006 | 12/07/2006 | A 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 | A 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.A | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 2 | Hungary;Slovakia;Austria;United Kingdom |