A National Registry For Pulmonary Alveolar Proteinosis
The major goal of Part A of this study is to establish a National PAP Registry to help make reliable new research tests available to doctors to improve the diagnosis of PAP, increase awareness and knowledge of PAP, and give patients a 'seat at the table' in planning and conducting PAP research including the clinical testing of several new potential therapies. The major goal of Part B of this study is to define the natural history of autoimmune PAP (aPAP), develop a disease severity score that reflects how aPAP patients feel and function, and to develop and test novel tools to measure the severity of aPAP lung disease. Funding Source - FDA OOPD
• Written informed consent and assent, if applicable
• History of chest computed tomogram or chest radiograph findings compatible with PAP
• History of diagnosis of PAP made by at least one of the following methods:
‣ Positive (Abnormal) serum GMAb test -OR-
⁃ Lung biopsy clearly documenting the presence of PAP of any type or degree -OR-
⁃ Bronchoalveolar lavage cytology compatible with PAP -OR-
⁃ Recessive or compound mutations in genes known to cause PAP, i.e. GM-CSF receptor α or β chain, GM-CSF, surfactant protein B or C or ABCA3, ABCG1, ABCA1, TTF1
• Diagnosis of autoimmune PAP as indicated by:
‣ Positive (Abnormal) Serum GMAb Test -AND-
⁃ History of chest CT or x-rays findings compatible with PAP -OR-
⁃ Lung biopsy clearly documenting the presence of PAP of any type or degree -OR-
⁃ Bronchoalveolar lavage cytology compatible with PAP