1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Manoli I, Pass A, Harrington E, Sloan J, Gagné J, McCoy S, Bell S, Hattenbach J, Leitner B, Duckworth C, Fletcher L, Cassimatis T, Galarreta C, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew N, Shchelochkov O, Chen K, Venditti C. 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA). Genetics In Medicine 2021, 23: 1522-1533. PMID: 33820958, PMCID: PMC8354855, DOI: 10.1038/s41436-021-01143-8.Peer-Reviewed Original ResearchConceptsMethylmalonic acidemiaTransplant recipientsBreath testingSerum methylmalonic acid concentrationsLiver transplant recipientsLiver-directed therapiesBone mineral densityNatural history protocolMethylmalonic acid concentrationsOxidative capacityEnteral bolusRenal functionClinical outcomesCognitive test resultsSerum biomarkersMineral densityClinical studiesTherapeutic effectBreath testHealthy volunteersSurrogate endpointsDisease severityRelated disordersGenomic therapyPatients