DORPHAN S.A. IS STRIVING TO DEVELOP INNOVATIVE THERAPIES FOR MUCOPOLYSACCHARIDOSES & OTHER LYSOSOMAL STORAGE DISEASES

Mucopolysaccharidoses and related diseases are inherited lysosomal storage diseases (LSDs) due to lysosomal enzyme deficiencies. Lysosomal enzymes are necessary to break down and recycle cell constituents. In LSD patients the recycling process is impaired and this results in accumulation of substrates. Due to the wide distribution of these compounds, the clinical manifestations of MPS are multisystemic.and cause very severe damage throughout the organs, such as in the heart, bones, joints, spleen, liver, respiratory system and central nervous system, depending on the disease type.

GM1-GANGLIOSIDOSIS AND MUCOPOLYSACCHARIDOSIS TYPE IVB

GM1-gangliosidosis and mucopolysaccharidosis type IVB (abbreviated MPS IVB, also called Morquio disease type B) are lysosomal storage diseases which are chronically debilitating and often fatal. They are caused by different mutations in the GLB1 gene coding for the beta-galactosidase, which result in decrease or elimination of enzyme activity. As of today, these two diseases remain orphan, meaning that no treatment exists. The patients options are only supportive and palliative treatments, such as orthopaedic surgery in the case of MPS IVB.

GM1-gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. It is a neurodegenerative disorder, which presents itself in three clinical forms: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). The disease is characterized by the accumulation of GM1-ganglioside, a substrate of beta-galactosidase, to toxic levels in tissues and organs, particularly in the brain.

Mucopolysaccharidosis type IVB belongs to the mucopolysaccharidoses family, a group of seven inherited disorders caused by defects in lysosomal enzymes involved in the degradation of various glycosaminoglycans. MPS IVB is characterized by skeletal dysplasia that results in short stature and skeletal abnormalities with secondary effects on the central nervous system in some cases. The disease is characterized by accumulation of keratan sulfate, a substrate of beta-galactosidase.