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

  
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PhaseCountries
1ChiCTR2100054613
2022-08-012021-12-21Effects of early application of PEG-rhGH on neurodevelopment and cognitive function in children with Combined methylmalonic acidemia and homocystinuriaEffects of early application of PEG-rhGH on neurodevelopment and cognitive function in children with Combined methylmalonic acidemia and homocystinuria Methylmalonic acidemiaExperimental group:PEG-rhGH;Control Group:None;Zhengzhou Children's HospitalNULLPending03BothExperimental group:30;Control Group:30;Phase 4China
2NCT05506254
(ClinicalTrials.gov)
July 20, 202216/8/2022Long-term Follow-up Study of Patients Who Received hLB-001 Gene TherapyA Long-term Follow-up Study of Patients in LogicBio Clinical Trials for Methylmalonic Acidemia Characterized by MMUT Mutations Who Received hLB-001Methylmalonic AcidemiaDrug: hLB-001LogicBio Therapeutics, IncAlexionActive, not recruitingN/AN/AAll8United States
3NCT05040178
(ClinicalTrials.gov)
June 30, 202216/6/2021An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and PediatricsA 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 PopulationsHyperammonemia;Methylmalonic Acidemia;Propionic AcidemiaDrug: Carglumic AcidRecordati Rare DiseasesTarget PharmaSolutions, Inc.RecruitingN/AN/AAll20United States
4NCT05295433
(ClinicalTrials.gov)
March 8, 202214/2/2022An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in the mRNA-3705-P101 StudyA 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 StudyMethylmalonic AcidemiaDrug: mRNA-3705ModernaTX, Inc.NULLRecruiting1 YearN/AAll33Phase 1/Phase 2Canada;United Kingdom
5JPRN-jRCT2041210065
04/09/202104/09/2021A Phase I/II Study of Bucladesine in Patients with Severe Methylmalonic AcidemiaA Phase I/II Multi-Institutional Study of Bucladesine in Patients with Severe Methylmalonic Acidemia - McAMP methylmalonic acidemia;C537358Bucladesine 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 TetsuyaNULLRecruiting>= 3month oldNot applicableBoth6Phase 1-2Japan
6NCT04899310
(ClinicalTrials.gov)
August 6, 202119/5/2021A Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic AcidemiaA 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 DeficiencyMethylmalonic AcidemiaBiological: mRNA-3705ModernaTX, Inc.NULLRecruiting1 YearN/AAll33Phase 1/Phase 2United States;Canada;Netherlands;United Kingdom
7NCT04581785
(ClinicalTrials.gov)
May 29, 20212/10/2020Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic AcidemiaA Phase 1/2 Open-label Clinical Study of hLB-001 Gene Therapy in Pediatric Patients With Methylmalonic Acidemia Characterized by MMUT MutationsMethylmalonic AcidemiaBiological: hLB-001LogicBio Therapeutics, IncAlexionActive, not recruiting6 Months12 YearsAll8Phase 1/Phase 2United States;Saudi Arabia
8NCT04836494
(ClinicalTrials.gov)
March 25, 202129/3/2021A 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 AcidemiaA 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 AcidemiaHealthy Volunteers;Propionic Acidemia;Methylmalonic Acidemia;Organic AcidemiaDrug: BBP-671;Drug: PlaceboCoA Therapeutics, Inc., a BridgeBio companyNULLRecruiting15 Years55 YearsAll128Phase 1United States
9NCT04732429
(ClinicalTrials.gov)
March 15, 202121/1/2021Study of HST5040 in Subjects With Propionic or Methylmalonic AcidemiaA 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 StudyMethylmalonic Acidemia;Propionic AcidemiaDrug: HST5040;Drug: PlaceboHemoShear TherapeuticsNULLRecruiting2 YearsN/AAll12Phase 2United States;Australia
10NCT04284917
(ClinicalTrials.gov)
November 28, 201924/2/2020Long-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 HospitalNULLEnrolling by invitation18 YearsN/AAll5N/ATaiwan
11EUCTR2019-001061-32-GB
(EUCTR)
25/10/201930/05/2019A clinical study to evaluate mRNA-3704 in Patients with MMAA 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.NULLNot RecruitingFemale: yes
Male: yes
34Phase 1;Phase 2United States;United Kingdom
12NCT03810690
(ClinicalTrials.gov)
May 28, 201914/1/2019Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic AcidemiaA 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 DeficiencyMethylmalonic Acidemia (MMA);Metabolism, Inborn ErrorsBiological: mRNA-3704ModernaTX, Inc.NULLWithdrawn1 YearN/AAll0Phase 1/Phase 2United States
13NCT04176523
(ClinicalTrials.gov)
January 15, 201920/11/2019Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods ApproachUnderstanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods ApproachMethylmalonic Acidemia;Propionic AcidemiaDrug: Carglumic AcidRecordati Rare DiseasesNULLRecruiting6 Months99 YearsAll75France;Germany;Italy;Norway;Spain;Sweden;United Kingdom
14NCT02426775
(ClinicalTrials.gov)
November 201522/4/2015Carglumic Acid in Methylmalonic Acidemia and Propionic AcidemiaRandomized 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 AcidemiaDrug: Carglumic AcidKing Abdullah International Medical Research CenterNULLCompletedN/A15 YearsAll33Phase 3Saudi Arabia
15NCT01599286
(ClinicalTrials.gov)
September 201211/5/2012Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaShort-Term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaPropionic Acidemia, Type I and/or Type II;Methylmalonic Acidemia;Carbamoyl-Phosphate Synthase I Deficiency Disease;Ornithine Carbamoyltransferase DeficiencyDrug: Carbaglu;Drug: Placebo;Drug: Standard of Care TreatmentMendel TuchmanChildren'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 ColoradoActive, not recruitingN/A99 YearsAll114Phase 2United States
16NCT01597440
(ClinicalTrials.gov)
September 201210/5/2012Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic AcidemiaLong-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic AcidemiaPropionic Acidemia;Methylmalonic AcidemiaDrug: N-carbamylglutamate;Other: Standard of CareMendel TuchmanChildren'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, DenverTerminatedN/A4 WeeksAll1Phase 2United States
17NCT01341379
(ClinicalTrials.gov)
December 201022/4/2011Increasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateIncreasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateUrea Cycle Disorders, Inborn;Inborn Errors of Metabolism;Propionic Acidemia;Methylmalonic Acidemia;Carbamyl Phosphate Synthetase DeficiencyDrug: N-carbamylglutamateChildren's Hospital of PhiladelphiaEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Withdrawn3 Years70 YearsBoth0Phase 2United States
18EUCTR2009-016654-41-IT
(EUCTR)
11/11/201005/07/2010A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia - NDA 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.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United Kingdom;Italy
19EUCTR2009-016654-41-BE
(EUCTR)
04/11/201022/12/2010Study of ataluren in patients with Methylmalonic AcidemiaA 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.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Belgium;Italy;United Kingdom;Switzerland
20NCT01141075
(ClinicalTrials.gov)
July 19, 20107/6/2010Ataluren for Nonsense Mutation Methylmalonic AcidemiaA Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic AcidemiaAmino Acid Metabolism, Inborn ErrorsDrug: AtalurenPTC TherapeuticsGenzyme, a Sanofi CompanyTerminated2 YearsN/AAll11Phase 2Belgium;France;Germany;Italy;Switzerland;United Kingdom
21EUCTR2009-016654-41-GB
(EUCTR)
01/06/201017/03/2010A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic AcidemiaA 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.NULLNot 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): noFrance;Belgium;Italy;United Kingdom
22EUCTR2009-016654-41-FR
(EUCTR)
02/03/201004/01/2010A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic AcidemiaA 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.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Belgium;Italy;United Kingdom
23EUCTR2020-004980-24-NL
(EUCTR)
28/07/2022A clinical study to evaluate mRNA-3705 in Patients with MMAA 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.NULLNAFemale: yes
Male: yes
33Phase 1;Phase 2France;United States;Canada;Spain;Australia;Netherlands;United Kingdom;Switzerland