Propionic Acidemia (PA) (DBCOND0057559)

Identifiers

Synonyms

Propionic Acidemia / Propionic acidaemia / Ketotic glycinaemia / Ketotic glycinemia / Propionic acidemia (disorder)

Associated Data

Indicated Drugs and Targets

Drug	Description	Targets
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.	Carbamoyl-phosphate synthase [ammonia], mitochondrialtarget

Clinical Trials

Identifier	Title	Drug(s)	Purpose	Phase	Status
NCT02890342	Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia	No drug interventions	Not Available	Not Available	recruiting
NCT05769621	A Retrospective Study to Characterize Participants With Propionic Acidemia and Methylmalonic Acidemia	No drug interventions	Not Available	Not Available	active_not_recruiting
NCT04159103	Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia	mRNA-3927	treatment	1 / 2	recruiting
NCT00645879	Anaplerotic Therapy in Propionic Acidemia	Benzalkonium Citric acid Glutamic acid L-Glutamine Ornithine Sodium citrate	treatment	1	completed
NCT05040178	An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics	Carglumic acid	Not Available	Not Available	recruiting
NCT02426775	Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia	Carglumic acid	treatment	3	completed
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 Acidemia	BBP-671	treatment	1	terminated
NCT04732429	Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia	No drug interventions	treatment	2	terminated
NCT01597440	Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia	Carglumic acid	treatment	2	terminated
NCT03655223	Early Check: Expanded Screening in Newborns	No drug interventions	Not Available	Not Available	enrolling_by_invitation
NCT01341379	Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate	Carglumic acid	treatment	2	withdrawn
NCT05438485	Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia	No drug interventions	Not Available	Not Available	terminated
NCT05130437	A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study	mRNA-3927	treatment	1 / 2	recruiting
NCT03159026	Review of Charts From Amish/Mennonite Variant PA Patients	No drug interventions	Not Available	Not Available	completed
NCT05687474	Baby Detect : Genomic Newborn Screening	No drug interventions	Not Available	Not Available	recruiting
NCT03484767	"The MaP Study": Mapping the Patient Journey in MMA and PA	No drug interventions	Not Available	Not Available	completed
NCT04176523	Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach	Carglumic acid	Not Available	Not Available	recruiting
NCT05842837	A Non-Interventional Post-Authorization Study of Carbaglu for the Treatment of Hyperammonemia Due to MMA and PA	Carglumic acid	Not Available	Not Available	enrolling_by_invitation