Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program

• Published in: Molecular genetics and metabolism Vol. 142; no. 1; p. 108350
• Main Authors: Yang, Erru, Kruger, Eliza, Yin, David, Mace, Kieran, Tierney, Meghan, Liao, Noelle, Cibelli, Emily, Drozd, Dan, Ross, Nathan, Deering, Kathleen L., Herout, Peter, Harshaw, Qing, Shillington, Alicia, Thomas, Nina, Marsden, Deborah, Kritzer, Amy, Vockley, Jerry
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.05.2024
• Subjects: Adolescent; Adult; Cardiomyopathies - drug therapy; Cardiomyopathies - genetics; Child; Child, Preschool; Fatty Acids - metabolism; Female; Health Resources; Humans; Hypoglycemia; Infant; Lipid Metabolism, Inborn Errors - drug therapy; Lipid Metabolism, Inborn Errors - genetics; Long-chain fatty acid oxidation disorder; Male; Medium chain triglyceride; Metabolism; Middle Aged; Oxidation-Reduction; Rare disease; Rhabdomyolysis - drug therapy; Rhabdomyolysis - genetics; Triglycerides; United States; Young Adult; United States; CPT I/II; HRU; ICD; Metabolism; PRO; ER; MCE; LC-FAOD; VLCAD; CACT; Medium chain triglyceride; Rare disease; IRB; LCHAD; Long-chain fatty acid oxidation disorder; NBS; MCT; TFP
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2024.108350

Major clinical events (MCEs) related to long-chain fatty acid oxidation disorders (LC-FAOD) in triheptanoin clinical trials include inpatient or emergency room (ER) visits for three major clinical manifestations: rhabdomyolysis, hypoglycemia, and cardiomyopathy. However, outcomes data outside of LC-FAOD clinical trials are limited. The non-interventional cohort LC-FAOD Odyssey study examines data derived from US medical records and patient reported outcomes to quantify LC-FAOD burden according to management strategy including MCE frequency and healthcare resource utilization (HRU). Thirty-four patients were analyzed of which 21 and 29 patients had received triheptanoin and/or medium chain triglycerides (MCT), respectively. 36% experienced MCEs while receiving triheptanoin versus 54% on MCT. Total mean annualized MCE rates on triheptanoin and MCT were 0.1 and 0.7, respectively. Annualized disease-related inpatient and ER events were lower on triheptanoin (0.2, 0.3, respectively) than MCT (1.2, 1.0, respectively). Patients were managed more in an outpatient setting on triheptanoin (8.9 annualized outpatient visits) vs MCT (7.9). Overall, this shows that those with LC-FAOD in the Odyssey program experienced fewer MCEs and less HRU in inpatient and ER settings during triheptanoin-treated periods compared with the MCT-treated periods. The MCE rate was lower after initiation of triheptanoin, consistent with clinical trials. •Long-chain fatty acid oxidation disorders are a group of rare metabolic disorders.•Treatments include medium-chain triglyceride (MCT) supplementation and triheptanoin.•Lower rates of disease manifestation were reported while on triheptanoin than MCT.•Lower rates of hospitalization were reported while on triheptanoin than MCT.