Glossary of Terms

Below please find more additional information about lysosomal storage disorders (LSDs).

Alpha-mannosidosis – Alpha-mannosidosis is a lysosomal storage disorder that is characterized by intellectual disability, hearing loss, ataxia, skeletal abnormalities, and coarse facial features.

Blood-brain barrier – The blood-brain barrier is a network of blood vessels and tissue that is made up of closely spaced cells and helps keep harmful substances from reaching the brain. The blood-brain barrier lets some substances, such as water, oxygen, carbon dioxide, and general anesthetics, pass into the brain. It also keeps out bacteria and other substances, such as many anticancer drugs.

Enzyme replacement therapy (ERT) – An ERT is a medical treatment whereby enzymes are given to individuals who suffer from chronic conditions resulting from enzyme deficiencies or malfunctioning of the enzymes. The most common conditions treated by ERTs are lysosomal storage diseases (LSDs).

Fabry Disease – Fabry disease is a rare, inherited (genetic) disorder resulting from buildup of globotriaosylceramide (GL-3) in cells throughout the body. Fabry disease affects less that one in 5,000 live births.

Gaucher disease – Gaucher disease is a rare, autosomal recessive, inherited disorder in which toxic levels of the fatty substance (lipid) glucocerebroside accumulate in cells. Gaucher affects one in 50,000 live births.

Gene therapy – A gene therapy is a therapeutic approach that uses genes to treat or prevent a particular disease. There are different approaches to gene therapy, including:

1. Replacing a gene that is not working properly and causes disease with a healthy copy of the gene
2. Stop or “knocking out,” a gene that is not functioning properly
3. Add a new gene into the body to help fight a disease

Krabbe Disease – Krabbe disease is an inherited disorder that destroys the protective coating, or myelin, of nerve cells in the brain and throughout the central nervous system. In most cases, the signs, and symptoms of Krabbe disease develop in babies before six months of age, and the disease usually results in death by age two.

Lysosomal storage disorders – Lysosomal storage disorders (LSDs) are a group of more than 50 rare inherited diseases that are associated with serious and debilitating complications that can shorten life. LSDs, which can present in infancy, childhood, or adulthood, are characterized by a specific lysosomal enzyme deficiency, resulting in the accumulation of the substrate within the cells’ endosomal/lysosomal compartments. Although individually classified as rare diseases, collectively, LSDs affect 1 in 5,000 live births. LSDs are progressive and represent a significant burden to the individuals with LSDs, their families, and the healthcare systems.

Lysosomal enzymes – Lysosomal enzymes degrade (break down) macromolecules (large molecules) and other materials (such as bacteria). Lysosomal enzymes need mannose 6-phosphate (M6P) to transport the therapy to where it is needed in the cell.

Mannose 6-phosphate (M6P) – M6P is a specialized carbohydrate structure found on the surfaces of lysosomal enzymes. M6P enables Enzyme replacement therapy (ERT) to bind to specialized M6P receptors on cell surfaces; once they attach to the receptors on the cell surfaces, they exert their biological function to metabolize the accumulating substrates.

Mucolipidosis Types II and III (ML II/ML III) – Mucolipidosis types II and III (ML II/ML III) are rare, autosomal recessive, inherited disorders that are partn GNPTAB-related disorders. ML II and ML III affect less that one in 5,000 live births.

Mucopolysaccharidosis IIIB (MPS IIIB) – Mucopolysaccharidosis IIIB (MPS IIIB), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition.

Phosphorylation – Phosphorylation is a process in which a phosphate group is added to a molecule, such as a sugar or a protein.

Pompe disease – Pompe disease is a rare, autosomal recessive, inherited disorder in which toxic levels of the complex sugar glycogen accumulates in cells. Pompe affects one in 50,000 live births.

Recombinant enzyme – An enzyme is a large biological molecule responsible for the thousands of metabolic processes that sustain life. Recombinant means that it is an organism, cell, or made of genetic material. 

S1S3 co-expression platform technology – Our innovative platform technology that gives us the capability of increasing the mannose 6-phosphate (M6P) content of Enzyme replacement therapy (ERT) to improve lysosomal targeting and delivery, and to develop best-in-class, targeted medicines, either ERT or gene therapy products, to treat the specific lysosomal storage disorder.