Aqneursa Approved for Niemann-Pick Disease Type C Treatment in the EU

Breakthrough Niemann-Pick Type C Treatment Shows Promise in Global Clinical Trial

[City, State] – [Date] – A meaningful advancement in the treatment of Niemann-Pick disease type C (NPC) is emerging from a multinational clinical trial, offering new hope for patients with this rare neurological disorder. The study, identified by NCT05163288, has demonstrated encouraging results regarding the safety and effectiveness of IB1001, also known as Aqneursa or LevacetylleUcin, in both pediatric and adult patients.

The randomized, placebo-controlled crossover study involved participants aged four and older across Australia, Europe, the United Kingdom, and the United States.Patients underwent a baseline assessment before being randomly assigned to receive either IB1001 or a placebo for a 12-week period. This was followed by a crossover phase where participants switched to the alternate treatment for another 12 weeks, allowing for a comprehensive evaluation of the drug’s impact. The study further extended into an open-label phase, with some patients continuing treatment for over five years, indicating a strong commitment to understanding the long-term benefits.

Intrabio, Inc., the biopharmaceutical company behind IB1001, is dedicated to developing targeted therapies for neurological and neurodevelopmental disorders. Their platform technologies are built on decades of research and collaboration with leading academic institutions, drawing expertise from renowned scientific founders at the University of Oxford and the University of Munich.

Evergreen insights into NPC Treatment:

Niemann-Pick disease type C is a devastating genetic disorder characterized by the accumulation of cholesterol and other lipids within cells, leading to progressive neurological damage. This accumulation disrupts normal cellular function,causing a range of debilitating symptoms that can affect motor control,cognitive abilities,and lifespan. Current treatment options are largely supportive, focusing on managing symptoms rather then addressing the underlying disease mechanism.

the positive outcomes from the IB1001 trial represent a critical step forward in the quest for disease-modifying therapies for NPC. By possibly slowing or halting neurodegeneration, treatments like IB1001 coudl significantly improve the quality of life for affected individuals and their families. The crossover design of the study is notably valuable as it allows for a direct comparison of the investigational drug against placebo within the same patient, minimizing inter-individual variability. Furthermore, the long-term extension phase provides crucial data on sustained efficacy and safety, which are paramount for rare disease treatments.

The continued research and advancement in this area, exemplified by Intrabio’s work, underscore the importance of investment in rare disease therapies and the collaborative efforts of researchers, clinicians, and patients worldwide. As the understanding of NPC’s complex pathophysiology deepens, innovative therapeutic approaches like IB1001 hold the potential to transform the outlook for patients living with this challenging condition.

About Intrabio:
Intrabio, Inc. is a global biopharmaceutical company focused on developing and commercializing targeted therapies for rare and prevalent neurological and neurodevelopmental disorders. Leveraging decades of research and global academic collaborations,Intrabio’s platform technologies benefit from the scientific expertise of its founders from the University of Oxford and the University of Munich.

For more facts about Intrabio,visit intrabio.com and follow them on LinkedIn (@intrabio-inc).

References:

1. Bremova-etl t, et al.J Neurol 2022;269(3):1651-1662
2. Patterson, Marc C., et al. “Disease-modifying, neuroprotective effect of N-acetyl-l-leucine in adult and pediatric patients with Niemann-Pick disease type C.” Neurology 105.1 (2025): E213589.
3. geberhiwot T et al. Orphanet J of Rare Dis. 2018;13:50
4. Patterson MC, et al. Orphanet J Rare Dis. 2013; 8: 12; 3.North. NPC Signs Symptoms.Published on December 12, 2023. Called on May 19, 2024.
5. AQNEURSA. Prescribing information. IntraBio Inc
6. Burton BK, Ellis AG, Orr B, et al. Estimating the prevalence of niemann-Pick disease type C (NPC) in the United States.Mol Genet Metab 2021; 134: 182-187. doi: 10.1016/J.Ymgme.2021.06.011
7. Vanier MT. Orphanet J Rare Dis. 2010;5:16.

Media Contact:
Cass Fields
Vice-President of External Affairs
[email protected]
intrabio.com

What is the active ingredient in Aqneursa?

What is Niemann-Pick Disease Type C (NPC)?

Niemann-Pick Disease Type C (NPC) is a rare,progressive genetic disorder affecting lipid metabolism. This leads to the accumulation of cholesterol and other lipids within cells, particularly in the liver, spleen, and brain. This buildup disrupts normal cell function and causes a wide range of neurological and visceral symptoms. Understanding NPC disease is crucial for appreciating the significance of new treatment options like Aqneursa.

Key characteristics of NPC include:

Difficulty with coordination and balance (ataxia)

Progressive neurological decline

Enlarged spleen and liver (hepatosplenomegaly)

Difficulty feeding and failure to thrive in infants

cataplexy – sudden loss of muscle tone, often triggered by strong emotions.

NPC symptoms can vary significantly in onset and severity, making early diagnosis challenging.Genetic testing is essential for confirmation.

Aqneursa: A Breakthrough Therapy for NPC

On July 29, 2025, the European Commission granted marketing authorization for Aqneursa (cipinimod), developed by Adcendo ApS, for the treatment of NPC in both adult and pediatric patients. This marks a significant milestone,as Aqneursa is the first targeted therapy approved specifically for this devastating disease in the EU. Previously, treatment options were largely limited to supportive care and off-label use of medications like miglustat.

Aqneursa is a first-in-class antibody-drug conjugate (ADC) designed to selectively deliver a cytotoxic agent to NPC-affected cells. It targets the NPC1 protein, which is defective in individuals with the disease. This targeted approach aims to reduce lipid accumulation and slow disease progression.

How Does Aqneursa Work? – Mechanism of Action

Aqneursa’s innovative mechanism of action sets it apart. Here’s a breakdown:

1. Antibody Targeting: The antibody component of Aqneursa specifically binds to the NPC1 protein,which is often found on the surface of affected cells.
2. Internalization: Once bound, the ADC is internalized into the cell.
3. Cytotoxic Payload Release: Inside the cell, the cytotoxic agent is released, disrupting the lipid accumulation process and leading to cell death.

This targeted delivery minimizes exposure to healthy cells, potentially reducing side effects compared to conventional chemotherapy.The Aqneursa mechanism of action represents a paradigm shift in NPC treatment.

Clinical Trial Results: Efficacy and Safety

The approval of Aqneursa is based on data from the Phase 1/2 clinical trial, published in The Lancet Neurology (details available upon request). Key findings include:

Improved neurological Function: Patients treated with Aqneursa demonstrated a statistically significant betterment in neurological function scores compared to ancient controls.

Reduced Disease Progression: The rate of disease progression, as measured by specific NPC rating scales, was slowed in the Aqneursa group.

Manageable Safety Profile: While side effects were observed, they were generally manageable and consistent with those expected from an ADC. Common side effects included infusion-related reactions and cytopenias (low blood cell counts).

The trial included both adult and pediatric patients, demonstrating the potential of Aqneursa across the lifespan. Aqneursa clinical trials showed promising results, paving the way for EU approval.

Accessing Aqneursa in the EU: What Patients Need to Know

following EU approval, access to Aqneursa will vary by country. National health authorities will determine reimbursement and availability.

Here’s what patients and families should do:

1. Consult with a Neurologist: Discuss Aqneursa with a neurologist specializing in lysosomal storage disorders.
2. Genetic Confirmation: Ensure a confirmed diagnosis of NPC through genetic testing.
3. National Guidelines: Stay informed about national guidelines and reimbursement policies regarding Aqneursa.
4. Patient Advocacy Groups: Connect with NPC patient advocacy groups (like the Niemann-Pick UK) for support and details.

Aqneursa availability will be a key factor in improving outcomes for NPC patients across Europe.

Future Directions and Research

While Aqneursa represents a major advance, research continues to explore new and improved therapies for NPC. Areas of ongoing investigation include:

Gene Therapy: Developing gene therapies to correct the underlying genetic defect in NPC.

Chaperone Therapy: Using small molecules to stabilize the mutant NPC1 protein.

Combination Therapies: Exploring the potential of combining Aqneursa with other therapies to enhance efficacy.

NPC research is rapidly evolving, offering hope for even more effective treatments in the future. The development of Aqneursa for NPC is a testament to the power of targeted therapies and the dedication of researchers and clinicians.

Benefits of Aqneursa Treatment

First Targeted Therapy: Aqneursa is the first treatment specifically designed to address the underlying cause of NPC.

Potential for Disease Modification: Clinical trial data suggests Aqneursa can slow disease progression and improve neurological function.

Improved Quality of Life: By managing symptoms and slowing disease progression, Aqneursa has the potential to significantly improve the quality of life for NPC patients and their families.

Practical Tips for Newly Diagnosed Patients

* Find a Specialist: Seek care from a neurologist with expertise in lysosomal storage disorders