methylmalonic acidemia

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Information
Disease name
methylmalonic acidemia
Disease ID
DOID:14749
Description
"An organic acidemia that involves an accumulation of methylmalonic acid in the blood." [url:http\://ghr.nlm.nih.gov/condition/methylmalonic-acidemia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT05506254 Active, not recruiting Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy July 20, 2022 December 31, 2037
NCT01599286 Completed Phase 2 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia September 1, 2012 April 30, 2020
NCT03484767 Completed "The MaP Study": Mapping the Patient Journey in MMA and PA March 20, 2018 May 29, 2021
NCT02426775 Completed Phase 3 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia November 2015 March 19, 2019
NCT00078078 Recruiting Clinical and Laboratory Study of Methylmalonic Acidemia June 7, 2004
NCT04176523 Recruiting Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach January 15, 2019 July 30, 2029
NCT04899310 Recruiting Phase 1/Phase 2 A Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia August 6, 2021 August 1, 2028
NCT05040178 Recruiting An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics June 30, 2022 June 30, 2032
NCT05295433 Recruiting Phase 1/Phase 2 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-3705 March 8, 2022 April 2, 2034
NCT01597440 Terminated Phase 2 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia September 2012 February 2015
NCT04836494 Terminated Phase 1 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 March 25, 2021 November 20, 2023
NCT05438485 Terminated Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia August 27, 2021 October 20, 2023
NCT04581785 Terminated Phase 1/Phase 2 Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia May 29, 2021 January 10, 2023
NCT04732429 Terminated Phase 2 Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia March 15, 2021 October 20, 2023
NCT01289158 Unknown status Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study February 2011 February 2012
NCT01341379 Withdrawn Phase 2 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate December 2010 August 2012
Disase is a (Disease Ontology)
DOID:0060159
Cross Reference ID (Disease Ontology)
GARD:7033
Cross Reference ID (Disease Ontology)
MESH:C537358
Exact Synonym (Disease Ontology)
methylmalonic aciduria
HPO alt_id (Human Phenotype Ontology)
HP:0003123
HPO alt_id (Human Phenotype Ontology)
HP:0008295
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0002912