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Therapeutic Protein Development Platfrom

Development of Protein Replacement Therapies for Rare Diseases

Protein replacement therapy is an effective treatment for metabolic diseases such as LSDs and hemophilia. Our company is committed to providing comprehensive protein replacement therapy solutions to accelerate the development of therapies for rare diseases caused by specific protein dysfunctions. Our reliable and expert scientific services and technical support help you make the right decisions in the early stages of rare disease drug discovery to enable next generation biopharmaceuticals.

Protein Replacement Therapies for Rare Diseases

Unlike monoclonal antibody (mAb), which is suitable for the treatment of rare diseases with gain of function of a particular protein, protein replacement therapy is designed for rare diseases associated with loss of function of a particular protein. The use of exogenously supplemented enzymes to replace missing or defective enzymes for therapeutic purposes (enzyme replacement therapy (ERT)) is one of the more successful directions in the development of protein replacement therapies. In the past few decades, there have been substantial breakthroughs in the field of ERTs, from plasma-derived products to recombinant proteins, to recombinant engineered proteins with superior therapeutic properties, including pegylation and other modifications.

Current research in ERT is primarily targeting lysosomal storage diseases (LSDs), which are genetic disorders caused by missing, insufficient or malfunctioning enzymes in the lysosomes, resulting in a pathological accumulation of their substrates. Enzymes for ERT are usually derived from recombinant proteins that allow modifications to provide a longer half-life, resistance to degradation, more potent activity, or targeting to a specific organ, tissue, or cell type. The current production of ERT enzymes typically uses Chinese hamster ovary (CHO) cells or modified human cells.

Fig. 1 Disease classes targeted by protein replacement therapies.

Fig. 1 Disease classes targeted by protein replacement therapies. (Crunkhorn S, 2013)

Our Protein-engineering Platform Technologies

We have mature protein engineering platform technologies to provide customers with therapeutic protein development services for rare disease.

  • Protein-engineering platform technologies
    • Production of proteins in transgenic animals
    • Production of proteins in transgenic plants
  • Rational protein structure/function technologies
    • Glyco-engineering
    • Fc fusion
    • Albumin fusion
    • PEGylation
    • Antibody-drug conjugates
    • mAb humanization/chimerism

Rare Disease Protein Replacement Therapy Development Services

The primary goal of our researchers is to help our customers develop effective alternative therapies for the treatment of proteins that are defective or dysfunctional due to mutations in individual genes associated with orphan diseases. Our protein replacement therapy development services target a variety of rare diseases, such as factor VII deficiency, hemophilia A, hemophilia B, Fabry disease, antithrombin deficiency, mucopolysaccharidosis I, ADA deficiency, and hypophosphatasia. Our therapeutic protein development services include, but are not limited to:

  • Development of coagulation factors, such as recombinant factor IX.
  • Development of hormones, such as parathyroid hormone.
  • Development of plasma proteins, such as recombinant C1 esterase inhibitors.
  • Development of engineered proteins to resemble Fc properties, such as peginterferon-α2b.
  • Development of enzymes, which are a special class of protein therapeutics, such as glucarpidase.

Our Solutions

Our rare disease protein replacement therapy development solutions include, but are not limited to:

  • Development of protein replacement therapies for different LSDs, such as Gaucher disease, Fabry disease, Hunter syndrome (MPS-II), and Maroteux-Lamy disease (MPS-VI).
  • Development of protein replacement therapy for recessive dystrophic epidermolysis bullosa.
  • Development of protein replacement therapy for Friedreich's ataxia.

As a leader in the discovery and manufacture of recombinant and therapeutic proteins, our company provides customers around the world with comprehensive protein replacement therapy development services. Our innovative services and technologies help you accelerate the early discovery process of rare disease treatment research and the breakthrough development of protein therapeutics. If you are interested in our services, please contact us for more information.


  • Crunkhorn, S. Enhanced chance of success for protein replacement therapies. Nat Rev Drug Discov, 2013, 12(6): 414-414.

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