National Registry and Research Study for Pulmonary Alveolar Proteinosis PAP Including Diagnosis and Disease Monitoring

What this Trial Is About

Pulmonary Alveolar Proteinosis PAP is a rare condition involving surfactant buildup in the lungs that causes breathing difficulties. This research aims to create a National PAP Registry to improve diagnosis and increase awareness of PAP. The study also focuses on defining the natural course of autoimmune PAP aPAP, developing a disease severity score, and testing new tools to assess lung disease severity and patient function. These efforts support advancing research and potential therapies for PAP. The study is divided into two parts. Part A establishes the National PAP Registry by enrolling participants with PAP to collect data through questionnaires and at-home blood collection using dried blood spot cards DBSC. This data helps validate new blood tests for diagnosing autoimmune PAP and identifying genetic risk factors. Part B reviews past medical records of aPAP patients, gathers patient input on symptoms and quality of life, develops a disease severity score combining patient reports and lung function data, and tests a mobile phone app to remotely measure exercise capacity. Participants contribute by completing questionnaires, providing blood samples by mail, and sharing medical records. Researchers evaluate blood tests for autoimmune PAP diagnosis, study disease prevalence, and analyze genetic risks. They also develop tools measuring how patients feel and function, including remote exercise testing. The study monitors participants over approximately five years, aiming to improve understanding, diagnosis, and patient-centered outcome measures for PAP.

A National Registry For Pulmonary Alveolar Proteinosis