Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare and rapidly progressing neurodegenerative condition, now has an expanded treatment option for young children. The Food and Drug Administration (FDA) has approved BioMarin Pharmaceutical Inc’s Brineura (cerliponase alfa) to treat children under the age of three with CLN2 disease. Previously, Brineura was only indicated for symptomatic children over three years old. This expanded approval means the drug can now be used for both symptomatic and presymptomatic children, allowing for earlier intervention and potentially altering the disease’s progression.
Hank Fuchs, MD, president of Worldwide Research and Development at BioMarin, highlighted the importance of this approval, stating, “Today’s approval represents a significant step forward in enabling children to be treated with Brineura as early as possible, when we can have the greatest impact in altering the natural course of disease. We know that every day counts for families affected by serious genetic conditions such as CLN2 disease, which is characterized by a rapid onset of neurodegenerative symptoms. We have been working diligently since Brineura’s initial approval to support this expanded use in children of all ages, even before they begin to show symptoms.”
Neuronal Ceroid Lipofuscinosis: Expanded Approval of Brineura Based on Positive Phase II Study Results
The expanded approval is based on positive results from the Phase II 190-203 study, which assessed the decline in motor function among children with CLN2 disease. The trial included children between the ages of one and six, showing a reduced decline in motor function and delayed disease onset in patients administered Brineura. Notably, children under three years of age maintained normal motor function scores when treated with Brineura. Among the eight children treated, seven were matched to 18 untreated children from a natural history cohort, where 61% of the untreated comparators showed an unreversed two-point decline or a score of zero by the final assessment.
Despite the promising results, BioMarin cautions against the use of Brineura in patients with active intraventricular access device-related complications, signs or symptoms of acute or unresolved localized infection around the device insertion site, suspected or confirmed central nervous system infection, or shunts used to drain extra fluid around the brain. Severe or life-threatening allergic reactions, such as anaphylaxis, can occur during infusions and up to 24 hours after, in both first-time and repeat patients.
Other potential adverse events (AEs) include meningitis, device-related complications, cardiovascular issues, and infusion-associated reactions. Common AEs reported include fever, electrical activity issues in the heart, altered protein levels in brain fluid, vomiting, seizures, device-related complications, hypersensitivity, hematoma, headache, irritability, increased white blood cell count in brain fluid, device-related infection, slow heart rate, jitteriness, and low blood pressure.
Neuronal Ceroid Lipofuscinosis: Early Treatment Emphasized by Batten Disease Expert Ineka Whiteman
Ineka Whiteman, PhD, head of research and medical affairs at the Batten Disease Support, Research, & Advocacy Foundation, emphasized the significance of early treatment. She stated, “Receiving a CLN2 diagnosis is devastating for families as the disease is life-limiting and can severely impact a child’s daily functioning and quality of life from a very young age, with symptoms including seizures, speech and language deficits, impaired movement, and vision loss.
The opportunity to start Brineura treatment earlier, even before the onset of symptoms, provides newfound hope for the families impacted by this rapidly progressive disease. Importantly, this expanded indication provides further impetus for early diagnosis of CLN2 disease, as we continue advocating for inclusion of CLN2 disease on the Recommended Uniform Screening Panel (RUSP) for newborn screening.”
This expanded indication of Brineura marks a significant advancement in the treatment of CLN2 disease, offering hope for improved outcomes through earlier intervention. The decision underscores the necessity of timely diagnosis and treatment in managing genetic and neurodegenerative diseases. With the ability to treat presymptomatic children, healthcare providers now have a powerful tool to potentially alter the disease’s trajectory, improving the quality of life and extending the lifespan of affected children.
BioMarin’s commitment to advancing treatments for rare genetic conditions is exemplified through this approval. By enabling earlier treatment with Brineura, the company is addressing a critical need within the CLN2 community. The FDA’s decision reflects a growing recognition of the importance of early intervention in genetic disorders and the potential for innovative therapies to transform patient outcomes.
In conclusion, the FDA’s expanded indication for Brineura to include children under three years of age with neuronal ceroid lipofuscinosis type 2 disease is a milestone in the fight against this devastating condition. By allowing for earlier treatment, Brineura offers a new ray of hope for families grappling with the rapid and severe impacts of CLN2 disease. As advocacy for newborn screening and early diagnosis continues, this approval highlights the ongoing efforts to improve lives through medical innovation and dedicated research.
Resource: Biomarin, July 25, 2024
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