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Specimen Collection in Pediatric Subjects (SPINS)

 Cystic fibrosis (CF) is a life-shortening, recessive genetic disorder affecting approximately 30,000 people in the United States. It impacts all races and ethnicities. It is characterized by pulmonary infection, chronic inflammation, pulmonary exacerbations, decline in lung function and poor nutritional status.

According to the 2022 Cystic Fibrosis Patient Registry annual report, the median predicted age of survival is now into the early 50s. While this shows significant improvement from previous years, there is still progress to be made. Even with the approval of new CFTR modulator therapy that has had dramatic impact on clinical outcomes, infection and inflammation in the lungs remains a significant problem. Additionally, ~20% of people with CF either do not qualify for a CFTR modulator medication or do not tolerate it.

With the support of the Cystic Fibrosis Foundation, basic and translational scientists are exploring the etiology and cellular mechanisms involved in CF to identify new molecular therapeutic targets. Clinical researchers are collaborating with commercial biotechnical firms to develop new therapeutic agents aimed at the amelioration and possible cure of the disease.

Access to banked, valuable clinical samples to facilitate the work is key in this rare disease. The SPINS project aims to collect oropharyngeal swabs, sputum, bronchoalveolar lavage fluid, blood and urine to serve as the foundation for current and future research projects in rare lung disease.  

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