Work

P015: Clinical characterization of classical homocystinuria due to cystathionine-beta synthase deficiency: Results from the ACAPPELLA study

Year: 2025

Type: article

Abstract: setting identified using ICD-10 Diagnosis Codes.MCEs and HRU of all disease related diagnoses were assessed up to 18 months before the baseline period and at least 6 months after triheptanoin initiation.Annualized event rates and durations were calculated.Results: Of 34 triheptanoin-treated patients, 23 (67.6%) were pediatric and 11 (32.4%) were female.65.2% of pediatrics and 72.7% of adults had history of rhabdomyolysis, hypoglycemia, and/or cardiomyopathy diagnoses.Before receiving triheptanoin, the annualized average total MCE rate was 0.52 vs 0.17 after triheptanoin initiation.Reductions were observed in all three MCEs: rhabdomyolysis decreased from 0.29 to 0.11, hypoglycemia from 0.06 to 0.00, and cardiomyopathy from 0.22 to 0.08.Annualized average MCE durations decreased from 4.4 to 0.9 days for all MCEs.Annualized average number of hospitalizations was 0.58 before triheptanoin vs 0.26 after triheptanoin initiation.MCE and hospitalization reductions were observed in both pediatric and adult patients.Conclusion: This study demonstrated that patients with LC-FAOD experienced fewer MCEs and fewer inpatient visits after receiving triheptanoin.Future studies comparing a no-treatment disease cohort are needed to better understand the triheptanoin treatment effect.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2025.102859