Real-world registries from health records allow access to prospective and retrospective data for further research on long chain fatty acid oxidation disorders (LCFAODs), according to a new study named Odyssey and published in Molecular Genetics and Metabolism.
“The [LCFAOD] Odyssey study, conducted with PicnicHealth, uses a novel patient centered design to collect prospective and retrospective data on the real-world impact of [LCFAOD], and prospective data of patient- and caregiver-reported outcomes (PROs),” the authors said.
“The goal is to fill the current data gap in real-world [LCFAOD] management and outcomes, and ultimately
identify areas in which to improve care.”
Read more about LCFAOD guidelines
A total of 13 patients previously diagnosed with LCFAODs had available medical records, with 7.5 median years of retrospective data, 15 median providers, and 6 median sites per patient. Eighteen patients also had prospective data available on PROs; of these, the most common (50%) diagnosis was long-chain 3-hydroxy-acyl-CoA dehydrogenase, followed by very long-chain acyl-CoA dehydrogenase in 38.88% of the cases, and carnitine palmitoyltransferase 2 with 6%. The remaining patient did not have a specific disease reported.
Furthermore, 8 individuals were under treatment with triheptanoin and 7 with medium-chain triglycerides (MCTs), and the majority had a diet restricted in fat, high in carbohydrates and carnitine supplements. Half of them also had limited exercise as part of their therapeutic schemes.
Regarding fasting intervals, the weighted average for all participants was 7.75 hours for all ages, 8.25 hours for children, and 7 hours for adults. No difference was observed in the fasting intervals between the groups treated with MCTs and triheptanoin.
To achieve the goal of this study of using real-world data to gain insight into LCFAOD progression and treatment by centralizing digital and anonymous medical records, Kruger et al included patients with all types of LCFAODs who had also completed a survey at the moment of enrollment and every 3 months during the first year to collect information on diagnosis, treatment, symptoms, quality of life, absenteeism, home management of disease, and participation in clinical trials.
Kruger E, Yang E, Reineking B, et al. Introduction to Odyssey: real-world rare disease data collection program for patients with long-chain fatty acid oxidation disorders in the US. Mol Genet Metab. Published online May 2022. doi:10.1016/s1096-7192(22)00205-0