246. Methylmalonic acidemia
14 clinical trials,   22 drugs   (DrugBank: 2 drugs),   1 drug target gene,   6 drug target pathways

Searched query = "Methylmalonic acidemia"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.

Search in Page e.g. "Phase 3", "Not recruiting", "Japan"
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
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size
PhaseCountries
1NCT04581785
(ClinicalTrials.gov)
January 15, 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, Inc.NULLNot yet recruiting6 Months12 YearsAll8Phase 1;Phase 2United States
2NCT04284917
(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
3EUCTR2019-001061-32-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
4NCT03810690
(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
5NCT04176523
(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;Italy;Norway;Spain;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6NCT02426775
(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
7NCT01597440
(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
8NCT01599286
(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
9NCT01341379
(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
10EUCTR2009-016654-41-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
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11EUCTR2009-016654-41-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
12NCT01141075
(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
13EUCTR2009-016654-41-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
PTC Therapeutics, Inc.NULLNot Recruiting Female: yes
Male: yes
18Phase 2France;Belgium;Italy;United Kingdom
14EUCTR2009-016654-41-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.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
18Phase 2United Kingdom;France;Italy