Evinacumab shows promise in treating rare genetic disorder in children

The novel LDLR-independent lipid-lowering therapy, evinacumab, has shown promising efficacy and safety in treating pediatric patients with Homozygous Familial Hypercholesterolemia (HoFH), according to results of a Phase 3 study.

The study, part of a larger 3-part investigation, focused on the pediatric cohort (5 to 11 years of age) with genetically confirmed HoFH. The 14 participants, true homozygotes and compound heterozygotes, exhibited LDL-C levels exceeding 130 mg/dL despite optimized lipid-lowering therapy, including LDLR-independent apheresis and lomitapide. The patients were administered intravenous evinacumab at a dosage of 15 mg/kg every 4 weeks.

Results from the Phase 3, part B, open-label study revealed a rapid and durable reduction in LDL-C levels, with a remarkable mean reduction of -48.3% (SE 10.4%) from baseline to week 24. This decrease was observed as early as the first week of treatment. Additionally, other key lipid markers, including ApoB, non-high-density lipoprotein cholesterol, and total cholesterol, exhibited substantial reductions of -41.3%, -48.9%, and -49.1%, respectively.

Although 71.4% of patients reported treatment-emergent adverse events, only 14.3% were considered treatment-related, involving mild symptoms such as nausea and abdominal pain. Notably, 1 serious treatment-emergent adverse event of tonsillitis occurred, but it was not considered related to the treatment.

Reference
Wiegman A, Greber-Platzer S, Ali S, et al. Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia. Circulation. 2023 Oct 20. doi: 10.1161/CIRCULATIONAHA.123.065529. Epub ahead of print. PMID: 37860863.