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INNOVATIVE SCIENCE

Delivering Protein Therapeutics to the CNS for Gaucher Disease

Cystic fibrosis (CF), a designated Orphan Disease, is a chronic, genetic illness that affects the digestive and respiratory tracts and is usually detected in pre-adolescents. CF results in generalized malnutrition and chronic respiratory infections. Long-term issues include difficulty in breathing and coughing up of mucus as a result of frequent lung infections. This is attributed to a notable thickening of mucus due to the genetic mutation of the CFTR protein.

  • There are currently approximately 33,000 people living with CF in the US and Canada.
  • Medical advances over the years have improved quality of life and survival rates, but, until recently, have done little to address the underlying causes.
  • Recently approved therapeutics and many under development are now serving to address the underlying genetic mutation(s) causing the disease.

FDA Approved Treatments

There are currently two recent therapeutics approved to treat the underlying genetic causes (as opposed to the symptoms) of CF:

  • KALYDECO® is the brand name of ivacaftor. Ivacaftor is what is called a potentiator, a molecule that assists in the improvement of a mis-folded but functional protein and improves its activity at the cell surface. KALYDECO® is approved for the treatment of patients who have the G551 D mutation, in approximately 4-5% of CF patients.
  • ORIKAMBI® is the brand name for a combination therapy of ivacaftor  and lumacacftor. Lumacaftor is a chaperone drug that helps the mutated CFTR protein fold properly so more of it can be transported to the cell surface where it works.