A new regulatory decision could significantly improve treatment access for children living with a rare genetic cholesterol disorder.
Chiesi Global Rare Diseases has announced that the U.S. Food and Drug Administration has approved Juxtapid (lomitapide) capsules for pediatric patients aged two years and older with Homozygous Familial Hypercholesterolemia (HoFH).
The therapy has been available in the United States for adult patients since 2012. This latest approval expands its use to much younger patients affected by the condition.
Homozygous Familial Hypercholesterolemia is an ultra-rare inherited disorder that causes extremely high levels of low-density lipoprotein cholesterol (LDL-C).
The condition affects roughly 1 in 250,000 to 1 in 360,000 people worldwide. Children with HoFH are often born with dangerously elevated cholesterol levels, placing them at high risk of:
Without early treatment, the disease can lead to serious cardiovascular events at a young age.
Juxtapid (lomitapide) is a prescription therapy used alongside:
The treatment works by reducing levels of LDL cholesterol in patients with HoFH.
With the expanded approval, the drug can now be prescribed to both adults and children aged two years and older living with the condition.
The regulatory decision by the U.S. Food and Drug Administration was supported by data from a Phase 3 open-label, multicenter clinical trial (APH-19).
Key study details include:
Participants received individualized doses of Juxtapid, titrated to their highest tolerated level.
The study demonstrated:
Most reported adverse events were gastrointestinal or liver-related, consistent with the therapy’s previously established safety profile.
According to Mitch Goldman, Senior Vice President of R&D at Chiesi Global Rare Diseases, the approval represents an important milestone for the HoFH community.
He emphasized that expanding access to Juxtapid allows very young patients to benefit from a therapy already proven effective in adults.
The announcement also coincided with Rare Disease Day, an international campaign focused on raising awareness about rare conditions and their impact on patients and families.
For patient advocates, the approval signals meaningful progress.
Katherine Wilemon, founder and CEO of the Family Heart Foundation, highlighted the challenges children with HoFH face from an early age.
Frequent medical visits and lifelong cardiovascular risks can significantly affect quality of life. Expanding treatment options for younger patients represents an important step toward improving outcomes.
While effective, Juxtapid requires careful monitoring.
Potential risks include liver-related complications, which is why healthcare providers must regularly monitor liver function during treatment.
Other important considerations include:
The drug is distributed only through certified pharmacies participating in the Juxtapid REMS program, which ensures appropriate monitoring and safe use.
With this expanded approval, Chiesi Global Rare Diseases strengthens its focus on delivering therapies for underserved rare disease populations.
For families affected by Homozygous Familial Hypercholesterolemia, earlier access to effective treatment could play a crucial role in reducing long-term cardiovascular risks and improving quality of life.