Positive Results From Clinical Trial for Children with Homozygous Familial Hypercholesterolemia

Regeneron Pharmaceuticals Inc. has just released positive results from their Phase 3 investigation of Evkeeza as a treatment for homozygous familial hypercholesterolemia (HOFH). Specifically, this trial studied the treatment for children who were between the ages of 5 and 11. This therapy is the first ANGPTL3-targeted treatment approved by the European Commission and the FDA as an adjunct treatment for individuals over 12 diagnosed with HoFH.


HoFH is an ultra-rare disease. It is a type of familial hypercholesterolemia (FH). In fact, it is the most severe of all forms of FH.

HoFH is caused when someone inherits 2 copies (one from both parents) of FH-causing genes. It leads to very dangerous levels of bad cholesterol – low-density lipoprotein-cholesterol (LDL-C). Patients often have levels of over 400 mg/dL.

Patients may face premature atherosclerotic disease and cardiac events very early on in life.

The Trial

This trial included 14 HoFH patients who were an average of nine years old. 86% of patients were taking statins, 14% were taking lomitapide, 50% were taking LDL aphaeresis, and 93% were taking ezetimibe. All patients were dosed for 24 weeks with Evkeeza at 15mg/kg every 4 weeks. The treatment was administered via IV in addition to their standard lipid-lowering therapies.

Even with their standard therapies, patients entered this trial with an LDL-C level of 264 mg/dL on average, which is over twice the level of the target for pediatric HoFH patients (less than 130mg/dL).

The primary endpoint of this trial was a reduction in LDL-C after 24 weeks of treatment. Patients in this trial had an average reduction of LDL-C of 48%. 79% of participants reduced their low-density lipoprotein-cholesterol by a minimum of one half, and the average reduction from baseline was 132 mg/dL. This improvement, demonstrated in children so young, means that this therapy could help to significantly improve outcomes for patients early in the course of HoFH.

Evkeeza was found to be well-tolerated. The most common AEs were abdominal pain, throat pain, headache, nasopharyngitis, and diarrhea. Regulatory submission will be made to the FDA later this year.

You can read more about this treatment and the Phase 3 trial here.

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