246. メチルマロン酸血症 Methylmalonic acidemia Clinical trials / Disease details
臨床試験数 : 23 / 薬物数 : 31 - (DrugBank : 8) / 標的遺伝子数 : 17 - 標的パスウェイ数 : 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 | ChiCTR2100054613 | 2022-08-01 | 2021-12-21 | Effects of early application of PEG-rhGH on neurodevelopment and cognitive function in children with Combined methylmalonic acidemia and homocystinuria | Effects of early application of PEG-rhGH on neurodevelopment and cognitive function in children with Combined methylmalonic acidemia and homocystinuria | Methylmalonic acidemia | Experimental group:PEG-rhGH;Control Group:None; | Zhengzhou Children's Hospital | NULL | Pending | 0 | 3 | Both | Experimental group:30;Control Group:30; | Phase 4 | China |
| 2 | NCT05506254 (ClinicalTrials.gov) | July 20, 2022 | 16/8/2022 | Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy | A Long-term Follow-up Study of Patients in LogicBio Clinical Trials for Methylmalonic Acidemia Characterized by MMUT Mutations Who Received hLB-001 | Methylmalonic Acidemia | Drug: hLB-001 | LogicBio Therapeutics, Inc | Alexion | Active, not recruiting | N/A | N/A | All | 8 | United States | |
| 3 | NCT05040178 (ClinicalTrials.gov) | June 30, 2022 | 16/6/2021 | An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics | A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations | Hyperammonemia;Methylmalonic Acidemia;Propionic Acidemia | Drug: Carglumic Acid | Recordati Rare Diseases | Target PharmaSolutions, Inc. | Recruiting | N/A | N/A | All | 20 | United States | |
| 4 | NCT05295433 (ClinicalTrials.gov) | March 8, 2022 | 14/2/2022 | An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in the mRNA-3705-P101 Study | A Phase 1/2, Global, Open-Label, Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in the mRNA-3705-P101 Study | Methylmalonic Acidemia | Drug: mRNA-3705 | ModernaTX, Inc. | NULL | Recruiting | 1 Year | N/A | All | 33 | Phase 1/Phase 2 | Canada;United Kingdom |
| 5 | JPRN-jRCT2041210065 | 04/09/2021 | 04/09/2021 | A Phase I/II Study of Bucladesine in Patients with Severe Methylmalonic Acidemia | A Phase I/II Multi-Institutional Study of Bucladesine in Patients with Severe Methylmalonic Acidemia - McAMP | methylmalonic acidemia;C537358 | Bucladesine will be administered intravenously over 60 minutes once a week. Starting dose is 0.3mg/kg. Dosage will be incerased to 0.55mg/kg, then 1.65mg/kg with monitoring PK and safety data. | Ito Tetsuya | NULL | Recruiting | >= 3month old | Not applicable | Both | 6 | Phase 1-2 | Japan |
| 6 | NCT04899310 (ClinicalTrials.gov) | August 6, 2021 | 19/5/2021 | A Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia | A Global, Phase 1/2, Open-Label, Dose Optimization Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency | Methylmalonic Acidemia | Biological: mRNA-3705 | ModernaTX, Inc. | NULL | Recruiting | 1 Year | N/A | All | 33 | Phase 1/Phase 2 | United States;Canada;Netherlands;United Kingdom |
| 7 | NCT04581785 (ClinicalTrials.gov) | May 29, 2021 | 2/10/2020 | Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia | A Phase 1/2 Open-label Clinical Study of hLB-001 Gene Therapy in Pediatric Patients With Methylmalonic Acidemia Characterized by MMUT Mutations | Methylmalonic Acidemia | Biological: hLB-001 | LogicBio Therapeutics, Inc | Alexion | Active, not recruiting | 6 Months | 12 Years | All | 8 | Phase 1/Phase 2 | United States;Saudi Arabia |
| 8 | NCT04836494 (ClinicalTrials.gov) | March 25, 2021 | 29/3/2021 | A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia | A First-in-human, Randomized, Placebo-controlled, Single and Multiple Ascending Dose Escalation to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BBP-671 in Healthy Subjects and In Patients With Propionic Acidemia or Methylmalonic Acidemia | Healthy Volunteers;Propionic Acidemia;Methylmalonic Acidemia;Organic Acidemia | Drug: BBP-671;Drug: Placebo | CoA Therapeutics, Inc., a BridgeBio company | NULL | Recruiting | 15 Years | 55 Years | All | 128 | Phase 1 | United States |
| 9 | NCT04732429 (ClinicalTrials.gov) | March 15, 2021 | 21/1/2021 | Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia | A Phase 2 Open-label, Dose Escalation Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Followed by a Randomized, Double-blind, Placebo-controlled, 2-period Crossover Study and an Open-label, Long-term Extension Study | Methylmalonic Acidemia;Propionic Acidemia | Drug: HST5040;Drug: Placebo | HemoShear Therapeutics | NULL | Recruiting | 2 Years | N/A | All | 12 | Phase 2 | United States;Australia |
| 10 | NCT04284917 (ClinicalTrials.gov) | November 28, 2019 | 24/2/2020 | Long-term Efficacy of Carglumic Acid in Organic Acidemia. | Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). | Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA) | Drug: Carglumic Acid (Carbaglu®) | National Taiwan University Hospital | NULL | Enrolling by invitation | 18 Years | N/A | All | 5 | N/A | Taiwan |
| 11 | EUCTR2019-001061-32-GB (EUCTR) | 25/10/2019 | 30/05/2019 | A clinical study to evaluate mRNA-3704 in Patients with MMA | 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 | Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: mRNA-3704 INN or Proposed INN: NA Other descriptive name: NA | ModernaTX, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 34 | Phase 1;Phase 2 | United States;United Kingdom | ||
| 12 | NCT03810690 (ClinicalTrials.gov) | May 28, 2019 | 14/1/2019 | 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. | NULL | Withdrawn | 1 Year | N/A | All | 0 | Phase 1/Phase 2 | United States |
| 13 | NCT04176523 (ClinicalTrials.gov) | January 15, 2019 | 20/11/2019 | Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach | Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach | Methylmalonic Acidemia;Propionic Acidemia | Drug: Carglumic Acid | Recordati Rare Diseases | NULL | Recruiting | 6 Months | 99 Years | All | 75 | France;Germany;Italy;Norway;Spain;Sweden;United Kingdom | |
| 14 | NCT02426775 (ClinicalTrials.gov) | November 2015 | 22/4/2015 | 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 | NULL | Completed | N/A | 15 Years | All | 33 | Phase 3 | Saudi Arabia |
| 15 | NCT01599286 (ClinicalTrials.gov) | September 2012 | 11/5/2012 | 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 National 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 | Active, not recruiting | N/A | 99 Years | All | 114 | Phase 2 | United States |
| 16 | NCT01597440 (ClinicalTrials.gov) | September 2012 | 10/5/2012 | 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 | Terminated | N/A | 4 Weeks | All | 1 | Phase 2 | United States |
| 17 | NCT01341379 (ClinicalTrials.gov) | December 2010 | 22/4/2011 | 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) | Withdrawn | 3 Years | 70 Years | Both | 0 | Phase 2 | United States |
| 18 | EUCTR2009-016654-41-IT (EUCTR) | 11/11/2010 | 05/07/2010 | A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia - ND | A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia - ND | Nonsense Mutation Methylmalonic Acidemia MedDRA version: 12.1;Level: LLT;Classification code 10064180;Term: Blood methylmalonic acid increased | Product Name: ATALUREN Product Code: PTC124 INN or Proposed INN: ataluren Product Name: ATALUREN Product Code: PTC124 INN or Proposed INN: ataluren Product Name: ATALUREN Product Code: PTC124 INN or Proposed INN: ataluren | PTC THERAPEUTICS, INC. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United Kingdom;Italy | ||
| 19 | EUCTR2009-016654-41-BE (EUCTR) | 04/11/2010 | 22/12/2010 | Study of ataluren in patients with Methylmalonic Acidemia | A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia | Nonsense Mutation Methylmalonic Acidemia (MMA) MedDRA version: 14.0;Level: LLT;Classification code 10064180;Term: Blood methylmalonic acid increased;System Organ Class: 10022891 - Investigations;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ataluren Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ataluren Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ataluren | PTC Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;Belgium;Italy;United Kingdom;Switzerland | ||
| 20 | NCT01141075 (ClinicalTrials.gov) | July 19, 2010 | 7/6/2010 | Ataluren for Nonsense Mutation Methylmalonic Acidemia | A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia | Amino Acid Metabolism, Inborn Errors | Drug: Ataluren | PTC Therapeutics | Genzyme, a Sanofi Company | Terminated | 2 Years | N/A | All | 11 | Phase 2 | Belgium;France;Germany;Italy;Switzerland;United Kingdom |
| 21 | EUCTR2009-016654-41-GB (EUCTR) | 01/06/2010 | 17/03/2010 | 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 INN or Proposed INN: ataluren Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 Product Name: Ataluren 250mg Product Code: PTC124 INN or Proposed INN: ataluren Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 Product Name: Ataluren 1000mg Product Code: PTC124 INN or Proposed INN: ataluren Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 | PTC Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;Belgium;Italy;United Kingdom | ||
| 22 | EUCTR2009-016654-41-FR (EUCTR) | 02/03/2010 | 04/01/2010 | 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 INN or Proposed INN: ataluren Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 Product Name: Ataluren 250mg Product Code: PTC124 INN or Proposed INN: ataluren Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 Product Name: Ataluren 1000mg Product Code: PTC124 INN or Proposed INN: ataluren Other descriptive name: PTC-0161480; PTC-124; Compound 1a; RPS 2505; PTC-C124; 291844 | PTC Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;Belgium;Italy;United Kingdom | ||
| 23 | EUCTR2020-004980-24-NL (EUCTR) | 28/07/2022 | A clinical study to evaluate mRNA-3705 in Patients with MMA | A Global, Phase 1/2, Open-Label, Dose Optimization Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of mRNA-3705 in Participants with Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency | Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: mRNA-3705 INN or Proposed INN: NA Other descriptive name: Modified mRNA encoding human methylmalonyl-coenzyme A mutase | ModernaTX, Inc. | NULL | NA | Female: yes Male: yes | 33 | Phase 1;Phase 2 | France;United States;Canada;Spain;Australia;Netherlands;United Kingdom;Switzerland |