Full Breakdown
Recent FDA Approvals for Rare and Pediatric Diseases
9/30/2025, 11:45:01 AM
Expansion of Evinacumab-dgnb for Pediatric Use
The U.S. Food and Drug Administration (FDA) has expanded its approval of evinacumab-dgnb, marketed as Evkeeza by Regeneron, to include treatment for children as young as 1 year old with homozygous familial hypercholesterolemia (HoFH). Previously, the drug was approved for children aged 5 and older. HoFH is a severe genetic disorder characterized by extremely low levels of low-density lipoprotein cholesterol (LDL-C), significantly increasing the risk of early cardiovascular disease in affected pediatric patients.
First Therapy Approved for Barth Syndrome
In a significant advancement for the treatment of ultra-rare diseases, the FDA has approved elamipretide, now branded as Forzinity, for Barth syndrome. This condition primarily affects males and is linked to severe muscle weakness and cardiomyopathy. Elamipretide is the first FDA-approved mitochondria-targeted therapeutic, designed to enhance mitochondrial function by binding to cardiolipin, a critical fat compound. The approval follows a challenging decade for Stealth BioTherapeutics, the drug's developer, which faced multiple setbacks, including a rejection from the FDA in 2021 due to insufficient trial data. The approval was granted under accelerated review, allowing for treatment of patients weighing over 30 kilograms, with plans for expanded access to younger patients still in development.
Guselkumab Approved for Pediatric Plaque Psoriasis and Psoriatic Arthritis
The FDA has also approved guselkumab (Tremfya) for children aged 6 and older with plaque psoriasis and active psoriatic arthritis. This marks the first approval of an interleukin (IL)-23 inhibitor for pediatric use in these conditions. The approval was based on the phase 3 PROTOSTAR study, which demonstrated significant efficacy, with 56% of patients achieving a 90% reduction in psoriasis severity compared to 16% on placebo.
Challenges in Treating Ultra-Rare Diseases
The approval of elamipretide highlights the broader challenges faced in developing treatments for ultra-rare diseases, which affect approximately one in a million individuals. The lack of awareness and small patient populations complicate clinical trials and deter investment. Despite the FDA's Orphan Drug Act, which aims to incentivize drug development for rare diseases, many conditions remain without effective treatments. The success of elamipretide offers hope for expedited regulatory attention to other ultra-rare diseases.
Official Statements & Responses
Reenie McCarthy, CEO of Stealth BioTherapeutics, stated, “The approval of FORZINITY is a pivotal victory for the Barth syndrome community,” emphasizing the importance of this treatment for patients. Similarly, Vimal Hasmukh Prajapati, MD, noted the significance of guselkumab’s approval, stating, “Every child deserves to feel comfortable in their own skin and to be active without the limitations of joint pain.”
Criticism & Opposition
Despite the advancements, there are concerns regarding the regulatory process for ultra-rare disease therapies. Critics have pointed to the lengthy approval timelines and the perceived bureaucratic hurdles that companies like Stealth BioTherapeutics faced. Some members of Congress have expressed frustration over the FDA's handling of applications for rare disease treatments, arguing that it hampers innovation and access to necessary therapies.
What's Next
As the landscape for rare disease treatments evolves, ongoing developments in gene and cell therapies are anticipated, particularly for conditions like Danon disease and LMNA-related dilated cardiomyopathy. The FDA's recent approvals signal a potential shift towards more accessible treatments for patients with rare and pediatric diseases.
