Other Rare
Disease Areas

Progressive Pulmonary Disease can be found in a range of rare diseases including non-CF Bronchiectasis and Primary Ciliary Dyskinesia. Synspira is focused on addressing these clinical conditions across a variety of potential indications with the goal of changing the course of disease and improving patient quality of life.

Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) 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 with the lack of mucociliary clearance responsible for recurrent chronic infections leading to bronchiectasis. The pathogenesis of pulmonary disease is similar between PCD and cystic fibrosis patients.

An estimated 5,000 to 10,000 people in the U.S. are living with PCD. The National Institutes of Health (NIH) estimates the occurrence of PCD as 1 in ~16,000 individuals worldwide. The current therapeutic goal is to slow the progression of pulmonary disease in these individuals.

For more information on primary ciliary dyskinesia visit the PCD Foundation at www.pcdfoundation.org.

Malabsorption Syndromes can be found in a range of rare diseases including Shwachman-Diamond Syndrome and chronic pancreatitis. Synspira is focused on addressing these clinical conditions across a variety of potential indications with the goal of changing the course of disease and improving patient quality of life.

Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome (SDS) is a disorder characterized by low blood counts, increased risk of leukemia, and digestive problems due to malfunction of the pancreas. Infants with SDS usually show symptoms early. They may have feeding problems, failure to thrive (do not gain weight), do not grow and may have frequent infections. In patients with SDS the part of the pancreas that produces enzymes does not work properly. Most cases of SDS are associated with genetic mutations in the SBDS gene. It is possible that additional genes that are not yet identified may also cause SDS. SDS is a very rare condition, but is estimated to affect about one in 75,000 people.

For more information on SDS, visit the Shwachman-Diamond Syndrome Foundation at www.shwachman-diamond.org/about-sds.

Chronic Pancreatitis

Chronic pancreatitis (CP) represents a continuous, prolonged, inflammatory and fibrosing process of the pancreas with irreversible morphologic changes resulting in permanent endocrine and exocrine pancreatic dysfunction. Gradual loss of function results in fat, protein and carbohydrate malabsorption, abdominal pain, and diabetes. Patients with CP have LCPUFA abnormalities leading to a hyper inflammatory state. CP is a serious disorder which can have a severe impact on quality of life in addition life expectancy in CP is diminished compared with the general population.

For more information on chronic pancreatitis and other disorders of the pancreas, visit the National Pancreas Foundation at www.pancreasfoundation.org.