IntraBio’s AQNEURSA® Gains CHMP Recommendation for Niemann-Pick Disease Type C, Signaling Major Breakthrough in Rare Neurological Disorder Treatment
In a landmark development for the rare disease community, IntraBio Inc., a pioneering biopharmaceutical company specializing in therapies for rare and debilitating neurological disorders, has announced that the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion recommending the approval of AQNEURSA® (levacetylleucine). The drug is intended for the treatment of Niemann-Pick disease type C (NPC), a devastating and progressive neurodegenerative condition with no widely approved treatment options to date.
This critical endorsement by the CHMP sets the stage for regulatory approval of AQNEURSA® across the European Union, potentially transforming the lives of patients and families affected by NPC by providing access to a long-anticipated therapy shown to slow and potentially reverse the course of this fatal disorder.
A Milestone for the NPC Community
The CHMP’s recommendation represents more than a regulatory checkpoint—it offers a powerful beacon of hope for individuals and families who have waited decades for a therapy that addresses the underlying progression of NPC.
“This positive CHMP opinion represents another important milestone in expanding access to AQNEURSA to the global NPC community,” said Dr. Marc Patterson, Chief Medical Officer of IntraBio. “The recommendation reflects the strength of our clinical data and the potential for AQNEURSA to be a foundational therapy for NPC, delivering meaningful benefits for patients. We are proud to work alongside the NPC community to bring this long-awaited treatment option to even more families.”
Patient CHMP advocates, clinicians, and caregivers have similarly lauded the announcement. For many, it represents a significant shift in what has historically been a therapeutic landscape defined by palliative care and limited disease-modifying options.
“For NPC families like mine, this positive opinion brings long-awaited hope for a treatment that can actually offer improvements,” said Carmelo Fernández, President of Fundación Niemann-Pick de España, a CHMP nonprofit dedicated to advocacy and support for NPC patients in Spain. “We have waited years for a therapy that can make a meaningful difference in the lives of people with NPC, and today’s announcement brings us one step closer.”
Understanding Niemann-Pick Disease Type C
NPC is a rare, autosomal recessive lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes, which result in the abnormal accumulation of cholesterol and other lipids within cells. The condition leads to progressive neurological decline, typically manifesting in childhood or adolescence, though adult-onset forms are also documented. Symptoms include:
- Impaired coordination and motor dysfunction
- Difficulty with speech and swallowing
- Vertical gaze palsy
- Cognitive decline
- Psychiatric disturbances
- Hepatosplenomegaly in early stages
NPC is considered ultra-rare, affecting an estimated 1 in 100,000 to 120,000 live births, though underdiagnosis and misdiagnosis are common due to its heterogeneous presentation and slow progression. Life expectancy is typically reduced, with many patients succumbing to the disease in adolescence or early adulthood.
The Clinical Evidence Behind AQNEURSA®
The CHMP’s recommendation is underpinned by compelling data from IntraBio’s pivotal Phase III trial (IB1001-301; NCT05163288). This randomized, double-blind, placebo-controlled study enrolled 60 pediatric and adult patients with genetically confirmed NPC. Conducted across multiple international clinical centers, the trial aimed to evaluate the efficacy and safety of AQNEURSA in improving neurological function over a 12-week treatment period.
The study met both its primary and all secondary endpoints, demonstrating statistically significant and CHMP clinically meaningful improvements in neurological symptoms and functional abilities when compared to placebo. Improvements were observed in motor coordination, speech, gait, and cognitive function, reflecting a broad therapeutic impact on the multisystemic manifestations of NPC.
AQNEURSA was also well tolerated, with a favorable safety profile observed throughout the study duration. Importantly, no serious adverse events attributable to the drug were reported, reinforcing its potential suitability for long-term administration.
The strength of the findings led to their publication in the New England Journal of CHMP Medicine in February 2024, where the trial results were hailed as a potential turning point in the treatment of NPC.1
Long-Term Benefits: Disease Modification and Neuroprotection
Beyond the initial 12-week efficacy trial, data from a long-term extension phase provided further support for AQNEURSA’s disease-modifying potential. Patients who continued on the therapy over a prolonged period experienced:
- Sustained neurological improvement
- Stabilization or reversal of disease progression
- Potential neuroprotective effects, suggesting the ability to delay the irreversible loss of brain function associated with NPC
These findings have generated significant excitement within the rare disease research community, as they imply not just symptomatic relief, but a fundamental alteration of the disease trajectory—a feat rarely achieved in ultra-rare neurodegenerative disorders.
AQNEURSA: A Decade in the Making
The development of AQNEURSA represents more than a decade of research and collaboration between IntraBio, academic researchers, patient advocacy groups, and international clinical centers. Originally identified for its potential to modulate lysosomal function and neuronal signaling pathways, levacetylleucine emerged as a candidate capable of targeting the core biochemical disruptions underlying NPC.
AQNEURSA’s mechanism of action involves stabilizing neuronal function and promoting cellular homeostasis in lysosomal pathways disrupted by the NPC1 or NPC2 mutations. This contrasts with earlier approaches that primarily addressed symptom management, such as miglustat, which has limited efficacy and no formal approval for NPC in many jurisdictions.
Regulatory Pathway Ahead
Following the CHMP’s positive opinion, the final decision on marketing authorization for AQNEURSA will now rest with the European Commission (EC). While the EC typically aligns with CHMP recommendations, its formal decision is expected in the coming months. If approved, AQNEURSA would become the first authorized treatment for NPC across the European Union, paving the way for wider access, reimbursement, and clinical adoption.
IntraBio is also preparing for regulatory submissions in other global regions, including the United States, Canada, Australia, and Latin America, with the aim of making AQNEURSA universally accessible to patients who currently have limited or no treatment options.
Commitment to the NPC Community
Throughout the development of AQNEURSA, IntraBio has maintained a close working relationship with patient groups, advocacy organizations, and caregivers. The company has pledged to support equitable access, expanded access programs, and education initiatives to ensure that the benefits of the therapy reach all eligible patients, regardless of geographic or socioeconomic barriers.
This patient-centered approach is reflective of a broader trend within rare disease drug development, where engagement with patient communities is seen not just as ethical, but essential for successful clinical and regulatory outcomes.
The success of AQNEURSA also marks a validation of IntraBio’s broader platform strategy for developing small molecule treatments for rare and orphan neurological diseases. The company is advancing a pipeline of candidates aimed at other lysosomal storage disorders, spinocerebellar ataxias, and neurodegenerative conditions with high unmet needs.
By leveraging its proprietary insights into lysosomal biology and neurological disease pathways, IntraBio aims to develop a new generation of treatments that go beyond symptom relief to offer true disease modification and neuroprotection.
References:
- Patterson M. et al. “Levacetylleucine for Niemann-Pick Disease Type C — A Phase 3 Randomized Trial.” New England Journal of Medicine. February 2024.
- IntraBio Inc. Long-Term Extension Study Data, 2024.
- Vanier MT. “Niemann-Pick disease type C.” Orphanet Journal of Rare Diseases.
- National Niemann-Pick Disease Foundation (NNPDF) – NPC Overview and Patient Resources.
The CHMP’s recommendation of AQNEURSA® marks a pivotal moment in the fight against Niemann-Pick disease type C. For the thousands of patients and families worldwide affected by this relentless disorder, it offers not just hope, but the real prospect of a brighter, healthier future. IntraBio’s scientific perseverance, clinical success, and community engagement may well be setting a new gold standard for innovation in rare disease therapeutics.
