FDA Approves Juxtapid for Pediatric Patients with Homozygous Familial Hypercholesterolemia
Key Insights
The US FDA has approved Juxtapid (lomitapide) capsules for pediatric use in homozygous familial hypercholesterolemia (search) (HoFH (search)) for children 2 years of age and older, expanding access to a proven therapy previously available only for adults.
A Phase 3 study demonstrated a mean 49% reduction in LDL cholesterol levels in 43 pediatric participants aged 5-17 years with HoFH (search) over a 24-week treatment period.
HoFH (search) is an ultra-rare genetic disorder affecting 1 in 250,000 to 1 in 360,000 individuals worldwide, causing dangerously high cholesterol levels from birth and significantly increased risk of severe atherosclerosis (search) without early intervention.
Chiesi Global Rare Diseases (search) announced that the US Food and Drug Administration has approved Juxtapid (lomitapide) capsules for pediatric use in homozygous familial hypercholesterolemia (search) (HoFH (search)) for children 2 years of age and older. The approval expands the indication of Juxtapid, which has been approved for adult patients with HoFH since 2012, to include very young patients with this ultra-rare genetic disorder.
HoFH (search) impacts an estimated 1 in 250,000 to 1 in 360,000 individuals worldwide, including children who can be born with dangerously high low-density lipoprotein cholesterol (search) (LDL-C) levels. Without early intervention, those living with this condition face a significantly increased risk of severe atherosclerosis (search).
Clinical Trial Results Support Pediatric Approval
The FDA's approval is based on evidence from a Phase 3, open-label, multicenter study (APH-19) evaluating the safety and efficacy of Juxtapid in 43 pediatric participants aged 5 to 17 years with HoFH (search) who were receiving standard-of-care lipid-lowering therapy and a low-fat diet. Over a 24-week treatment period, Juxtapid was titrated to each participant's highest tolerated dose.
The study demonstrated a mean 49% reduction in low-density lipoprotein cholesterol (search) (LDL-C) from baseline, accompanied by significant decreases in non-high-density lipoprotein cholesterol (non-HDL-C), total cholesterol, very low-density lipoprotein cholesterol (VLDL-C), apolipoprotein B, and triglycerides. An integrated model-based analysis confirmed that Juxtapid is safe and efficacious for the treatment of HoFH (search) in pediatric populations and supports the dose justification in children more than 2 years old.
Addressing Unmet Medical Need in Pediatric Population
"This approval represents more than a regulatory milestone; it's a meaningful advancement for children and families living with HoFH (search)," said Mitch Goldman, Senior Vice President, R&D, Chiesi Global Rare Diseases (search). "By expanding access to Juxtapid for children 2 years of age and older, we're enabling very young members of the HoFH community to benefit from the same proven treatment that has already helped adults manage their condition."
Katherine Wilemon, Founder and CEO of Family Heart Foundation, emphasized the challenges faced by pediatric patients: "Children with HoFH (search) face extraordinary challenges from the moment they're diagnosed. Their lives are shaped by frequent medical visits and the constant worry of cardiovascular risk at an age when most kids are just learning to ride a bike or play sports. The recent treatment approval for this age group marks a meaningful step forward for young children impacted by HoFH."
Safety Profile and Administration Requirements
Adverse events in the pediatric study were primarily gastrointestinal or hepatic in nature, consistent with the known safety profile of Juxtapid. The drug can cause liver problems such as increased liver enzymes or increased fat in the liver, requiring healthcare providers to conduct blood tests to check liver function before starting treatment, when doses are increased, and during ongoing therapy.
Juxtapid is available only through certified pharmacies enrolled in the Juxtapid REMS Program, and healthcare providers must be enrolled in the program to prescribe the medication. The drug is used along with a low-fat diet, exercise, and other LDL-lowering medicines to reduce LDL-C in patients with HoFH (search).
Disease Background and Treatment Context
Homozygous familial hypercholesterolemia (search) is a serious, rare genetic disease that impairs the function of the receptor responsible for removing LDL cholesterol from the body. A loss of LDL receptor (search) function results in extreme elevation of blood cholesterol levels, and individuals with HoFH (search) often develop premature and progressive atherosclerosis (search), a narrowing or blocking of the arteries.
The approval announcement was made during the week of Rare Disease Day, which aims to raise awareness about the impact of rare diseases on patients. This regulatory milestone provides a new treatment option for very young patients with HoFH (search), addressing a critical unmet medical need in pediatric rare disease management.