246. メチルマロン酸血症 ［臨床試験数：6，薬物数：16（DrugBank：2），標的遺伝子数：1，標的パスウェイ数：6］
Searched query = "Methylmalonic acidemia"
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.
| 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 | NCT03810690 | May 28, 2019 | 2 September 2019 | Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia | A Global, Phase 1/2, Open Label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency | Methylmalonic Acidemia (MMA);Metabolism, Inborn Errors | Biological: mRNA-3704 | ModernaTX, Inc. | Recruiting | 1 Year | N/A | All | 34 | Phase 1/Phase 2 | United States | |
| 2 | NCT02426775 | November 2015 | 6 May 2019 | Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia | Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) | Propionic Acidemia;Methylmalonic Acidemia | Drug: Carglumic Acid | King Abdullah International Medical Research Center | Not recruiting | N/A | 15 Years | All | 33 | Phase 3 | Saudi Arabia | |
| 3 | NCT01597440 | September 2012 | 16 December 2017 | Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia | Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia | Propionic Acidemia;Methylmalonic Acidemia | Drug: N-carbamylglutamate;Other: Standard of Care | Mendel Tuchman | Children's Research Institute;Boston Children’s Hospital;University Hospitals Cleveland Medical Center;University of California, Los Angeles;Children's Hospital of Philadelphia;Lucile Packard Children's Hospital;University of Colorado, Denver | Not recruiting | N/A | 4 Weeks | All | 1 | Phase 2 | United States |
| 4 | NCT01599286 | September 2012 | 24 June 2019 | Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia | Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia | Propionic Acidemia, Type I and/or Type II;Methylmalonic Acidemia;Carbamoyl-Phosphate Synthase I Deficiency Disease;Ornithine Carbamoyltransferase Deficiency | Drug: Carbaglu;Drug: Placebo;Drug: Standard of Care Treatment | Mendel Tuchman | Children's Research Institute;Boston Children’s Hospital;University Hospitals Cleveland Medical Center;University of California, Los Angeles;Children's Hospital of Philadelphia;Stanford University;Icahn School of Medicine at Mount Sinai;University of Pittsburgh;Children's Hospital Colorado | Not recruiting | N/A | 99 Years | All | 114 | Phase 2 | United States |
| 5 | NCT01341379 | December 2010 | 19 February 2015 | Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate | Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate | Urea Cycle Disorders, Inborn;Inborn Errors of Metabolism;Propionic Acidemia;Methylmalonic Acidemia;Carbamyl Phosphate Synthetase Deficiency | Drug: N-carbamylglutamate | Children's Hospital of Philadelphia | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Not recruiting | 3 Years | 70 Years | Both | 0 | Phase 2 | United States |
| 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 | EUCTR2009-016654-41-FR | 02/03/2010 | 19 March 2012 | A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia | A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia | Nonsense Mutation Methylmalonic Acidemia MedDRA version: 12.1 Level: LLT Classification code 10064180 Term: Blood methylmalonic acid increased | Product Name: Ataluren 125mg Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ataluren CAS Number: 775304-57-9 Current Sponsor code: PTC124 Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 125- Product Name: Ataluren 250mg Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ataluren CAS Number: 775304-57-9 Current Sponsor code: PTC124 Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 250- Product Name: Ataluren 1000mg Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ataluren CAS Number: 775304-57-9 Current Sponsor code: PTC124 Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 1000- | PTC Therapeutics, Inc. | Authorised | Female: yes Male: yes | 18 | Phase 2 | United Kingdom;France;Italy |