Rare Diseases
Rare diseases are defined as life threatening or chronically debilitating diseases which are of low prevalence. Approximately 7,000 rare diseases have been identified with the majority of these caused by genetic defects with disease symptoms starting to manifest in childhood causing lifelong debility and often premature death.
Although each disease is rare, it is estimated that 6-8% of the population may be affected by a rare disease and that less than 10% of all known rare disease are currently being treated.
Rare diseases, commonly referred to as orphan diseases, have largely been neglected by the pharmaceutical industry. To encourage research into finding treatments, the US and EU introduced legislation that provides a number of benefits for companies including easier marketing approval from the regulatory authorities for new drugs and extended patent protection. As a consequence, many major pharmaceutical companies are now active in the area with many setting up specialist rare disease units.
Seglins for Rare Diseases
Mutations in amino acids, the building blocks of proteins, are responsible for about half of the genetic changes that are known to cause rare diseases. These mutations result in the malfunction of proteins causing unwanted cell behaviour and leads to disease.
To modulate the underlying cause of protein malfunction requires a compound to either bind directly to the protein or disturb the cellular processes which cause the protein malfunction. Carbohydrate structures are understood to be directly or indirectly involved and therefore as carbohydrate mimics, Seglins have a range of biological attributes suitable to address the protein defect and offer the potential for the development of new treatments for many rare diseases.
Using its Seglin™ technology platform, Summit has discovery projects targeting a number of rare diseases and has generated data against indications including Cystic Fibrosis and various lysosomal storage disorders (LSDs).
