- What is Cystic Fibrosis?
Cystic Fibrosis (CF) is a life-threatening genetic disorder where thick mucus is primarily built up in the lungs, causing severe respiratory problems and complications (such as bacterial infection and inflammation). It is the most common fatal genetic disease affecting Canadian children and there is no cure available. Mucus build up also occurs in the digestive tract, reducing the efficiency of nutrient absorption.
CF is characterized by several signs and symptoms including: difficulty breathing; a chronic wet, rattling cough that brings forth thick mucus and sometimes blood; severe, chronic lung infections (primary cause of CF-related deaths); failure to grow or gain weight and extreme difficulty digesting food. Mild forms of the disease are sometimes confused and diagnosed as other common diseases such as asthma, COPD, pneumonia or celiac disease.
- What is CF caused by?
CF is caused by an inherited defective gene. However, the gene is recessive. As such, an affected individual must inherit one set of defective CF genes from both the mother and father. Otherwise, the person may carry the gene, but not exhibit any symptoms. This is not to say that two carrier parents will definitely conceive a child with CF nor will that child be a carrier for CF. CF detection is being added to several provincial newborn screening programs.
More than 30,000 individuals in the United States and 70,000 people worldwide are living with CF. Each year 1,000 new cases are diagnosed. This disease is most common in the Caucasian population where the birth rate is 1 in 3200. By utilizing improved diagnostic strategies and therapeutics, people living with CF can experience an increased quality of life and greater survival.
- Treatment Gap
While the majority of treatments on the market for CF target symptomatic alleviation, a cure for the disease has not yet been discovered. Airway clearance therapies such as hypertonic saline and rhDNase help to loosen up and clear thick, sticky mucus, while inhaled medications via a nebulizer enable airway dilation and mucus-thinning. The current remedies that aid in clearing the airways and reducing infection help slow respiratory decline, but will eventually fail over time. Therapies such as Salbutamol (Ventolin) and corticosteroids used to dilate airways will become less effective as the disease state worsens. At this point, CF patients will require more desperate measures such as mechanical ventilation and lung transplantation in order to survive.
When it comes to managing chronic respiratory conditions, there is clearly an unmet need. By using the S-1226 rescue drug and delivery device, the buildup of mucus associated with many of these conditions can be effectively corrected.