Methylmalonic Acidemia (MMA) (DBCOND0057560)

Identifiers

Synonyms
Methylmalonic aciduria / Methylmalonicacidemia / Methylmalonic Acidemia / Methylmalonic acidaemia / Methylmalonic acidemia (disorder)

Associated Data

Indicated Drugs and Targets
DrugDescriptionTargets
Carglumic acid
An analog of N-acetylglutamate (NAG) used for the treatment of acute and chronic hyperammonemia in patients with N-acetylglutamate synthase (NAGS) deficiency.
Clinical Trials
IdentifierTitleDrug(s)PurposePhaseStatus
NCT05330039
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)No drug interventionsNot AvailableNot Availablecompleted
NCT05778877
A Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMAtreatment1 / 2withdrawn
NCT03810690
Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic AcidemiaNo drug interventionstreatment1 / 2withdrawn
NCT04248062
Patient and Observer Reported Outcome Measurements in Inborn Errors of MetabolismNo drug interventionsNot AvailableNot Availablecompleted
NCT00078078
Clinical and Laboratory Study of Methylmalonic AcidemiaNo drug interventionsNot AvailableNot Availablerecruiting
NCT05769621
A Retrospective Study to Characterize Participants With Propionic Acidemia and Methylmalonic AcidemiaNo drug interventionsNot AvailableNot Availableactive_not_recruiting
NCT05295433
An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705treatment1 / 2recruiting
NCT05506254
Long-term Follow-up Study of Patients Who Received hLB-001 Gene TherapyNo drug interventionsNot AvailableNot Availableactive_not_recruiting
NCT05040178
An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and PediatricsNot AvailableNot Availablerecruiting
NCT04581785
Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic AcidemiaNo drug interventionstreatment1 / 2terminated
NCT02426775
Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemiatreatment3completed
NCT01289158
Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome StudyNo drug interventionsNot AvailableNot Availableunknown_status
NCT04836494
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 Acidemiatreatment1terminated
NCT04732429
Study of HST5040 in Subjects With Propionic or Methylmalonic AcidemiaNo drug interventionstreatment2terminated
NCT01597440
Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemiatreatment2terminated
NCT04899310
A Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemiatreatment1 / 2recruiting
NCT01341379
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamatetreatment2withdrawn
NCT05438485
Natural History Study of Patients With Methylmalonic Acidemia and Propionic AcidemiaNo drug interventionsNot AvailableNot Availableterminated
NCT01599286
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemiatreatment2completed
NCT03484767
"The MaP Study": Mapping the Patient Journey in MMA and PANo drug interventionsNot AvailableNot Availablecompleted
NCT04176523
Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods ApproachNot AvailableNot Availablerecruiting
NCT05842837
A Non-Interventional Post-Authorization Study of Carbaglu for the Treatment of Hyperammonemia Due to MMA and PANot AvailableNot Availableenrolling_by_invitation