Home Health New hope for Treatment Against Niemann-Pick disease Type C

New hope for Treatment Against Niemann-Pick disease Type C


A study using an amino-acid for the treatment of Niemann-Pick disease Type C (NPC), may provide a huge breakthrough for a disease with no current treatment. 

The drug, IB1001 from Oxford-based Intrabio, demonstrated a statistically significant and clinically meaningful improvement in symptoms, functioning, and quality of life in both primary and topline secondary endpoints for both pediatric and adult patients with NPC. Patients aged 6 years and older were enrolled at trial sites in the United States, the United Kingdom, and the European Union.

NPC is a rare (1:120,000 live births), prematurely fatal, autosomal recessive, lysosomal storage disorder.  The disease begins in early childhood and presents with systemic, psychiatric, and neurological symptoms, including cerebellar ataxia.

The trial met its primary endpoint, the Clinical Impression of Change in Severity (CI-CS), which was assessed by blinded, centralized raters.

The trial also met topline secondary endpoints, including the Scale for the Assessment and Rating of Ataxia (SARA) and the Investigators’ Clinical Global Impression of Change (CGI-C) assessment.

IB1001 was observed to be safe and well-tolerated, with no drug-related serious adverse events.

NPC begins in early childhood and presents with systemic, psychiatric, and neurological symptoms, including cerebellar ataxia.  NPC is chronic and progressive in nature and is characterized by rapid degeneration of the cerebellum and major organ systems which severely impacts the quality of life. 

New Breakthrough for NPC Patients

“This treatment is a breakthrough for the NPC patient community,” said Professor Susanne Schneider, Principal Investigator, Ludwig Maximilians University of Munich.  “The statistically significant and clinically meaningful response in primary and topline secondary endpoints with IB1001, together with its compelling safety profile, easy oral administration [sachet mixed with water] affirm the very favorable risk/benefit profile of IB1001 as a treatment for this devastating disease.”

There is no approved treatment for NPC in the United States.  Treatment of NPC in the European Union and several other countries is limited to the Johnson & Johnson (NYSE: JNJ) substrate reduction therapy drug Zavesca™ (miglustat). Other pharmaceutical companies investigating treatments for Niemann-Pick include Sanofi (Nasdaq: SNY), Orphazyme (Nasdaq: ORPH), Mallinckrodt (NYSE: MNK), Neurotrope (Nasdaq: NTRP), Cyclo Therapeutics (OTCMKTS: CTDH), and Okklo Life Sciences. 

The National Niemann-Pick Disease Foundation’s Executive Director Joslyn Crowe commented: “The exciting results of the IB1001 clinical trial bring new levels of hope and optimism to patients and families affected by Niemann-Pick disease type C.  There continues to be a critical need for new therapies to treat NPC and we are so grateful to our partners like IntraBio for their continued commitment to finding new treatments like IB1001.”

The trial sponsor, IntraBio Inc, is a biopharmaceutical company with a late-stage drug pipeline including novel treatments for common and rare neurodegenerative diseases, including NPC, GM2 Gangliosidosis, and Ataxia-Telangiectasia.  

IB1001, N-acetyl-L-leucine, is an orally administered modified amino acid.  In vivo studies have identified N-acetyl-L-leucine to be the active isomer of N-acetyl-DL-leucine and can restore neuronal function and protect against/delay disease progression in multiple neurological circuits of the brain.  The mechanism of N-acetyl-L-leucine is known to be multi-modal, including altered glucose and antioxidant metabolism, reduced lysosomal storage, and the reduction of neuroinflammation in the cerebellum, leading to the attenuation of cell death.

Professor Antony Galione, FRS, FMedSci, Statutory Professor of Pharmacology, University of Oxford commented, “We are particularly excited from what we know from in vitro and in vivo studies into the cellular mechanisms that this drug, IB1001, has the potential to ameliorate not only rare genetic neurological diseases like NPC but also some of the more common neurodegenerative diseases prevalent in society with large unmet medical needs.”

“IB1001 is part of IntraBio’s broad platform of novel treatments to provide neuroprotection, disease modification, and symptomatic relief from multiple neurodegenerative and lysosomal storage diseases,” noted Mallory Factor, Chairman of IntraBio Inc.  “We are currently trialing IB1001 treatment of GM2 (Tay-Sachs and Sandhoff disease) and Ataxia-Telangiectasia (AT).  IntraBio is preparing to initiate clinical trials with IB1001 for other rare and neurodegenerative diseases.”