Other Rare
Disease Areas

Other Disease Focus Areas for Synspira:
Primary Ciliary Dyskinesia and Non-CF Bronchiectasis

About Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD), also known as Kartagener’s Syndrome or immotile cilia syndrome, is a rare inherited disorder caused by defects in the structure and function of cilia.

  • Cilia are required to clear mucus and foreign bacteria in the pulmonary tract; lack of mucociliary clearance responsible for recurrent chronic infections leading to bronchiectasis.
  • Chronic coughing, wheezing, respiratory distress, excess mucus, chronic nasal congestion and recurrent cold symptoms.

An estimated ~5-10,000 people in the U.S. are living with PCD. It is estimated to affect 1 in about 10-20,000 individuals worldwide.

  • Prevalence in children with chronic respiratory infections has been estimated to be as high as 5%.
  • Up to 85% of individuals have a history of unexplained neonatal respiratory distress; improving diagnosis is critical to long-term care.

The pathogenesis of pulmonary disease is similar between PCD and CF patients. Impaired ciliary activity results in persistent or recurrent infections, frequent pulmonary exacerbations, which significantly disrupts quality of life and leads to progressive pulmonary deterioration and life-threatening complications.

Patients experience a decline in lung function with age, with many adult patients having lung function within the transplant range. The primary treatment goal is to slow the progression of pulmonary disease.

About Non-CF Bronchiectasis

Non-CF bronchiectasis (NCFB) is a rare, progressive pulmonary disorder in which the bronchi become permanently dilated due to chronic inflammation and infection. Neutrophils play a key role in the pathologic inflammatory process.

  • Mucus clogs airways and biofilms trap bacteria leading to frequent infections and resistance, inflammation, lung damage and eventually respiratory failure in a subset of patients.
  • Symptoms include chronic cough, excessive sputum, shortness of breath.

Frequent exacerbations are generally a result of infection, leading to progression of bronchiectasis. The cycle of infection and inflammation can result in a permanent loss of lung function.

  • Most patients suffer from chronic bacterial infections, leading to accelerated decline in lung function, worsened QoL, increased hospitalizations and increased morbidity and mortality.
  • Non-CF bronchiectasis imposes a significant burden on patients, requiring longer hospital stays, more frequent outpatient visits, more extensive medical therapy.

Learn more about how SNSP113 addresses disease processes in PCD and NCFB >

 

Patient Resources

PCD Foundation

A comprehensive resource for patients and healthcare professionals, whose mission is to improve the quality of life of those affected by PCD and to develop the means to find a cure.

CHEST Foundation

A resource for people living with COPD, whose mission is to champion lung health by supporting clinical research grants, community service, and patient education.