First results from a long-term disease monitoring program in patients with long-chain fatty acid oxidation disorders
2Children's Hospital of Pittsburgh of UPMC, USA
3University of South Florida, USA
4The Hospital for Sick Children, Canada
5University of Minnesota, USA
6Ultragenyx Pharmaceutical Inc., USA
Background: The long-chain fatty acid oxidation disorders (LC-FAOD) disease monitoring program (DMP) is a multinational, observational, long-term, prospective outcomes study to collect information for up to 10 years from pediatric and adult patients with LC-FAOD, regardless of disease management approach.
Methods: Participants enrolling (N≈300 planned) in the LC-FAOD DMP are managed at the discretion of their treating providers. Patients treated with triheptanoin receive the medication through authorized commercial use or expanded access programs (EAP). The first patient was enrolled in the DMP on 30-Nov-2021; enrollment is ongoing in the United States and Canada.
Results: As of 28-Feb-2023, 31 pediatric (<18 years of age) and 20 adult (≥18 years of age) participants with LC-FAOD were enrolled in the DMP. In the pediatric and adult groups, mean (min, max) age at enrollment was 8.9 (0.7, 17.3) and 31.1(19.3, 69.0) years, respectively. Mean (SD) years of age at LC-FAOD diagnosis was 1.0 (2.3) in the pediatric group and 12.2 (16.2) in the adult group. In the pediatric and adult groups, 14 (45%) and 11 (55%) participants were male, respectively. Twenty participants in the pediatric group and all adults received triheptanoin; of these, 14 pediatric and 10 adult participants completed the Month 6 visit, and four pediatric and three adult participants completed the Year 1 visit.
At DMP enrollment, all participants in the pediatric triheptanoin group (n=20) and three participants in the pediatric no triheptanoin group reported a mean (SD) number of major clinical events in the previous 18 months (MCEs; rhabdomyolysis, cardiomyopathy, and hypoglycemia) of 1.3 (2.3) and 1.0 (0.0), respectively; all participants in the adult triheptanoin group (n=20) reported a mean (SD) number of MCEs of 0.4 (0.8).
Conclusions: The LC-FAOD DMP will be a rich dataset for patients and healthcare providers who treat patients with LC-FAOD. MCE details, including type and duration at DMP visit milestones, will be reported. Enrollment and follow-up are ongoing.
.png)