FDA Expands Indication for Lomitapide to Include Pediatric Patients With Homozygous Familial Hypercholesterolemia

The FDA expanded the indication for lomitapide (Juxtapid) capsules to include pediatric patients aged 2 years and older who are living with homozygous familial hypercholesterolemia (HoFH). This landmark decision, announced by Chiesi Global Rare Diseases, marks a significant shift in the management of this ultra-rare genetic disorder that was previously limited to adult patients since the drug's initial approval in 2012.¹

For pharmacists, this expansion necessitates a deeper understanding of the clinical data supporting the new age group, the stringent monitoring requirements, and the critical role of patient counseling regarding diet and drug-drug interactions.¹

“Children with HoFH face extraordinary challenges from the moment they’re diagnosed,” Katherine Wilemon, founder and CEO of Family Heart Foundation, said in a news release.¹ “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.”

Homozygous familial hypercholesterolemia is characterized by a nearly complete loss of low-density lipoprotein (LDL) receptor function, leading to dangerously high levels of LDL cholesterol that often exceed 400 mg/dL starting at birth. This condition is significantly more severe than the more common heterozygous form, as children with HoFH face an extraordinary risk of developing aggressive, premature atherosclerosis and potential cardiovascular events, such as heart attacks, as early as their first decade of life.²

Pharmacists should be aware that the physical manifestations of this extreme cholesterol elevation may include cutaneous or tendon xanthomas, which are yellowish cholesterol deposits under the skin or on the knuckles and Achilles tendons, as well as arcus corneae, a visible white or grey ring around the cornea of the eye.²

The pediatric approval was primarily supported by evidence from the APH-19 (NCT04681170) study, a phase 3, open-label, multicenter trial that evaluated 43 pediatric participants between the ages of 5 and 17 years. Study results demonstrated a mean 53.5% reduction in LDL cholesterol from baseline over a 24-week period when lomitapide was added to existing lipid-lowering therapies and a low-fat diet.¹

In addition to the significant drop in bad cholesterol, the trial showed clinically meaningful decreases in other vital lipid parameters, including total cholesterol, apolipoprotein B, and triglycerides. Integrated model-based analyses further confirmed that the safety and efficacy observed in this cohort supported the dose justification for even younger children starting at age 2 years.¹

Lomitapide functions as a microsomal triglyceride transfer protein (MTP) inhibitor, directly impeding the assembly of apolipoprotein B-containing lipoproteins in both the liver and the intestine. By inhibiting MTP, the drug reduces the production of very low-density lipoprotein and chylomicrons, which ultimately leads to lower plasma LDL cholesterol levels. Pharmacists must note that lomitapide is highly protein-bound and undergoes extensive hepatic metabolism primarily through the cytochrome P450 3A4 (CYP3A4) pathway. Consequently, the medication is strictly contraindicated for use with moderate or strong CYP3A4 inhibitors, as these can dramatically increase lomitapide exposure and the risk of toxicity.^1,3

Safety remains a paramount concern for pharmacists dispensing this medication, particularly due to the risk of hepatotoxicity. Lomitapide is associated with elevations in serum transaminases and an increase in hepatic fat accumulation, which may lead to progressive liver diseases like steatohepatitis or cirrhosis. Because of these risks, the drug is only available through the restricted Juxtapid Risk Evaluation and Mitigation Strategy (REMS) Program, which requires both prescribers and pharmacies to be certified. Pharmacists must ensure that patients have baseline liver function tests before initiation and regular monitoring throughout treatment, especially during dose titration.^1,3

“This approval represents more than a regulatory milestone; it’s a meaningful advancement for children and families living with HoFH,” Mitch Goldman, senior vice president of R&D at Chiesi Global Rare Diseases, said in the news release.¹ “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.”

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REFERENCES

1. Chiesi Global Rare Diseases announces FDA approval of Juxtapid (lomitapide) capsules for pediatric use in homozygous familial hypercholesterolemia (HoFH). News release. Chiesi Global Rare Diseases. Accessed March 3, 2026. https://chiesirarediseases.com/media/20251215chiesi-global-rare-diseases-announces-fda-approval-of-juxtapid-lomitapide-capsules-for-pediatric-use-in-homozygous-fa

2. American Heart Association. Understanding homozygous familial hypercholesterolemia. Updated October 30, 2023. Accessed March 3, 2026. https://www.heart.org/en/health-topics/cholesterol/genetic-conditions/homozygous-fh

3. Rayan RA, Patel P, Sharma S. Lomitapide. [Updated 2024 Feb 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560849/