Niemann-Pick Disease Type C (NPC) 

Niemann-Pick disease Type C (NPC) is a rare genetic disorder, occurring in approximately 1 in 100,000 live births. It is an autosomal recessive, lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes. These mutations lead to lysosomal and mitochondrial dysfunction, resulting in progressive neurodegeneration.

Clinical Symptoms

NPC is a heterogenous disease characterized by neurological, systemic, and psychiatric manifestations, resulting in significant functional and cognitive impairment.

The entire central nervous system is typically affected in NPC. Neuronal dysfunction and death causes damage throughout the brain, resulting in a variety of serious and debilitating physical and cognitive symptoms often resulting in premature death. 

Disease Presentation

The course of NPC varies highly from patient to patient depending on the age of onset of neurological symptoms, from a rapidly progressing neonatal form to an adult-onset chronic neurodegenerative condition. Individuals whose neurological symptoms begin in early childhood generally have a faster disease progression than individuals whose symptoms begin later in life. The impact of NPC on affected individuals and their caregivers is often profound regardless of disease severity.

NPC is a serious, debilitating, progressive, neurodegenerative condition.

AQNEURSA (levacetylleucine)

The U.S. Food and Drug Administration (FDA) approved AQNEURSA for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adults and pediatric patients weighing ≥15 kg. 

For more information, please visit aqneursa.com

IMPORTANT SAFETY INFORMATION

Embryo-Fetal Toxicity

• Based on findings from animal reproduction studies, AQNEURSA may cause embryo-fetal harm when administered during pregnancy. The decision to continue or discontinue AQNEURSA treatment during pregnancy should consider the female’s need for AQNEURSA, the potential drug-related risks to the fetus, and the potential adverse outcomes from untreated maternal disease.

Pregnancy and Lactation

• For females of reproductive potential, verify that the patient is not pregnant prior to initiating treatment with AQNEURSA. Advise females of reproductive potential to use effective contraception during treatment with AQNEURSA and for 7 days after the last dose if AQNEURSA is discontinued.
• There are no data on the presence of levacetylleucine or its metabolites in either human or animal milk, the effects on the breastfed infant or the effects on milk production. The developmental and health benefits of breastfeeding should be considered along with the mother’s clinical need for AQNEURSA and any potential adverse effects on the breastfed infant from levacetylleucine or from the underlying maternal condition.

Adverse Reactions

• The most common adverse reactions (incidence ≥5% and greater than placebo) are abdominal pain, dysphagia, upper respiratory tract infections, and vomiting.

Drug Interactions

• Avoid concomitant use of AQNEURSA with N-acetyl-DL-leucine or N-acetyl-D-leucine. The D-enantiomer, N-acetyl-D-leucine, competes with levacetylleucine for monocarboxylate transporter uptake, which may reduce the levacetylleucine efficacy.
• Monitor more frequently for P-gp substrate related adverse reactions when used concomitantly with AQNEURSA; AQNEURSA inhibits P-gp; however, the clinical significance of this finding has not been fully characterized.

U.S. full Prescribing Information for AQNEURSA is available here.

NPC Support & Resources

The International Niemann Pick Disease Alliance (INPDA) is a global network of non-profit organizations, supporting persons affected by Niemann Pick diseases (NPD). Currently, there are member organizations from 19 countries.  

For additional support and resources, and to find a local Niemann-Pick disease patient organization, please visit www.inpda.org 

Publications

For publications on non-clinical and clinical data on IB1001, please click here.

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