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Animal Models for Endocrine and Metabolic Rare Diseases

Animal Models for Metabolic Rare Diseases

Animal models play an important role in the study of the mechanisms of metabolic rare diseases and in the evaluation of drug development. Our company provides comprehensive disease modeling and preclinical research services for a wide range of rare metabolic diseases such as lysosomal storage diseases (LSDs) and glycogen storage diseases using the most advanced technologies and best practices in the field. Our team of experts is dedicated to providing high-quality services that enable our clients to advance the understanding and treatment of metabolic rare diseases.


Metabolic rare diseases are diseases that result from some defect or abnormality in the metabolic process. These diseases are usually caused by genetic factors and affect the body's metabolic processes, such as protein, carbohydrate, and lipid metabolism. Metabolic rare diseases usually lead to serious health problems, including muscle wasting, liver disease, neurological damage, and more. Due to the rarity and complexity of these diseases, sophisticated research tools and techniques are needed to understand their physiopathological mechanisms.

Animal models provide researchers with valuable tools to study disease mechanisms and test potential therapies in a controlled environment. Research in preclinical animal models of LSDs has enabled the development of several therapeutic strategies, including bone marrow transplantation, recombinant enzyme replacement therapy (ERT) using related defective enzymes, substrate deprivation, and gene therapy.

Metabolic Rare Diseases Modeling Services

Our state-of-the-art facilities and cutting-edge technologies enable us to develop and validate animal models of metabolic rare diseases with high precision and accuracy. We use the latest genetic engineering technologies, such as CRISPR/Cas9, to develop animal models with specific genetic mutations that mimic the pathophysiology of human diseases.

Our animal modeling services cover multiple LSDs caused by mutations in genes encoding lysosomal enzymes and subsequent accumulation of incompletely degraded substrates, such as Fabry's disease, Gaucher's disease, and mucopolysaccharide storage (MPS) disease. In addition to LSDs, we also provide various animal models for rare inherited metabolic diseases caused by enzyme deficiencies, such as acute intermittent tent porphyria (AIP) and hypophosphatasia disorders. 

Animal Models for Fabry's Disease

Animal Models for MPS Disorders

Animal Models for Gaucher's Disease

Animal Models for Niemann-Pick Disease

Animal Models for Pompe's Disease

Animal Models for Alpha-Mannosidosis

Animal Models for Tay-Sachs Disease

Animal Models for Acute Intermittent Porphyria

Animal Models for Hypophosphatasia

Using these animal models, we offer a wide range of preclinical research services for metabolic rare diseases, including pharmacokinetics and pharmacodynamics studies, efficacy and safety assessments, and toxicology studies. These studies are conducted in accordance with regulatory guidelines and best practices to ensure the safety and efficacy of potential therapies.

Our company has many years of experience in the development and characterization of animal models for metabolic rare diseases. Our team of experts, including molecular biologists, geneticists, and pharmacologists, work closely with you and provide high-quality solutions for your metabolic rare disease research. If you are interested in our disease modeling services, please contact us for more information.


  • Vaquer, G.; et al. Animal models for metabolic, neuromuscular, and ophthalmological rare diseases. Nature Reviews Drug Discovery, 2013, 12(4): 287-305.

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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