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Animal Models for Niemann-Pick Disease

Niemann-Pick Disease is a very complex disease, making it very difficult to generate animal models that can appropriately cover all aspects of the disease pathology in its clinical manifestations. Critically evaluating the available models and selecting the most appropriate model for individual research objectives is critical for drug discovery, development, and translation. Our company is dedicated to providing a range of disease modeling and preclinical research services for Niemann-Pick diseases, including the generation of disease animal models, phenotype analysis, drug discovery and development, and pharmacokinetic and pharmacodynamic studies. We work closely with our clients and provide expert guidance on animal model selection and study design. In conclusion, these services can help our clients advance their understanding of Niemann-Pick diseases and provide possibilities for new treatment methods for patients in need.

Background

Niemann-Pick disease, a rare genetic disorder affecting lipid metabolism, is characterized by the accumulation of excess lipids in the patient's liver, kidneys, spleen, and even brain, resulting in symptoms of varying severity in these organs. Types A and B Niemann-Pick diseases are caused by a mutation in sphingomyelin phosphodiesterase 1 (SMPD1), whereas type C Niemann-Pick disease is caused by mutations in either the NPC1 or the NPC2 genes. Of these, NPC1 is the most common type, with clinical manifestations mainly consisting of neurological dysfunction, hepatic dysfunction, and pulmonary problems.

Animal models are essential for studying the pathogenesis and potential therapies for Niemann-Pick disease. With the development of new cellular technologies, scientists have developed a large number of available in vitro and in vivo models. Combined with the development of multiple drugs with various mechanisms of action, the field of Niemann-Pick disease is at an exciting time.

Fig. 1 Improvement of life span, body weight loss, and rotarod performance in AAV-Npc1−/− mice.

Fig. 1 Improvement of life span, body weight loss, and rotarod performance in AAV-Npc1−/− mice. (Kurokawa Y, et al., 2021)

Disease Modeling Services

Our expert team offers a range of disease modeling and a variety of in vivo services for Niemann-Pick disease, particularly NPC1 disease, enabling researchers to achieve their milestones. Our disease models include disease-phenotype, humanized, and customized genetically engineered models and we help our clients select the most appropriate animal models for their research projects. 

Animal Models for Niemann-Pick Type C (NPC)

The highly conserved nature of the NPC1 gene in eukaryotes makes it possible to build models of NPC disease from mammals to fungi. Our experts offer clients a wide range of animal models including cats, mice, fruit flies, zebrafish, nematodes, and more. We also provide phenotyping services for animal models, including behavioral testing and histopathology.

  • We offer feline NPC models including NPC1 models with a point mutation in the feline NPC1 gene and a spontaneous feline NPC2 model with an NPC2 defect.
  • We offer a variety of murine NPC models, including:
    NPC mouse models with null alleles, including Npc1nih, Npc1spm, and Npc2tm1Plob.
    NPC mouse models with point mutant alleles, including Npc1pf/pf, Npc1I1061t, Npc1nmf164.
    Other murine NPC models. We help our clients to knock down the hepatic expression of Npc1 in wild-type mice in vivo by an antisense oligonucleotide knockdown approach to produce a liver phenotype similar to the Npc1nih model. This model can be used to study various therapeutic concepts for NPC liver pathology. Furthermore, we offer our clients the novel NPC mouse models Npc1imagine/imagine and Npc1imagine/pioneer with pseudo-exon generating Npc1 mutations, which do not produce functional NPC1 protein and recapitulate the key hallmarks of NPC.
  • We also develop NPC models of common laboratory model organisms such as the zebrafish (Danio rerio), the roundworm (Caenorhabditis elegans), the fruit fly (Drosophila melanogaster), and the yeast (Saccharomyces cerevisiae) for insight into the NPC cellular pathways.

Animal Models for Niemann-Pick Type A And B

We help clients generate transgenic SMPD1-deficient knockout mouse models through gene targeting and embryonic stem cell transfer to validate the effective therapeutic approach for type A and type B Niemann–Pick disease.

Preclinical Research

With extensive experience in developing and testing potential treatment methods for Niemann-Pick diseases, We offer pharmacokinetic and pharmacodynamic studies to evaluate the efficacy and safety of potential treatments. These studies can provide critical information on how the drug is absorbed, distributed, metabolized, and excreted in the body. Toxicology testing can assess the safety of the drug and identify any potential side effects.

Our experts are dedicated to providing our clients with different animal models for Niemann-Pick disease research. These animal models provide a valuable platform for exploring disease mechanisms, establishing pharmacodynamic response biomarkers, and evaluating potential therapies. If you are interested in our disease modeling services, please contact us for more information.

Reference

  • Kurokawa, Y.; et al. Gene therapy in a mouse model of Niemann–pick disease type C1. Human Gene Therapy, 2021, 32(11-12): 589-598.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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