Clinical Trial: A National Registry For Pulmonary Alveolar Proteinosis

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: A National Registry For Pulmonary Alveolar Proteinosis

Brief Summary: The major goal 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.

Detailed Summary: PAP is a rare syndrome of surfactant accumulation and resulting hypoxemic respiratory failure that occurs in a number of diseases classified pathogenically into three groups: primary PAP (caused by disruption of GM-CSF signaling - autoimmune PAP, hereditary PAP), secondary PAP (caused by reduction in alveolar macrophage numbers and/or functions), and surfactant dysfunction-related PAP (caused by mutations in genes required for normal surfactant production). In current clinical practice, PAP is diagnosed based on a lung biopsy; an approach that is not able to identify the PAP-causing disease in anyone. Current therapy involves the physical removal of surfactant by a procedure in which the lungs are repeatedly filled with saline and emptied - whole lung lavage, which is invasive, inefficient, and not widely available, especially for children. Importantly, research advances have elucidated the pathogenesis of diseases causing PAP in most patients and have identified new diagnostic and therapeutic approaches. Simple blood-based research tests can now identify the PAP-causing disease in about 95% of patients. Further, several promising potential disease-specific therapies are currently in development. The long-term goals of the Rare Lung Diseases Consortium include improving the diagnosis and therapy of people with PAP. A major goal of this protocol is to establish a National PAP Registry. Our central hypothesis is that a nationwide campaign to enroll and communicate with a large cohort of PAP patients will have important benefits including 1) accelerating the translation of research diagnostics into clinical practice, 2) increasing knowledge among patient and healthcare communities about PAP, and 3) engagement of PAP patients and doctors in planning and conducting PAP research. The specific objectives of this study are to: 1) determine the ability of the DBSC GMAb Test to correctly identify autoimmune PAP among people with PAP of any type, 2) estimate the prevalence of
Sponsor: Children's Hospital Medical Center, Cincinnati

Current Primary Outcome: DBS card GM-CSF autoantibody levels to diagnose Autoimmune PAP [ Time Frame: 5 years ]

GM-CSF antibody measurement from a diagnostic blood spot (DBS) card to diagnose autoimmune PAP among participants with PAP of any type


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Prevalence of Autoimmune PAP [ Time Frame: 5 years ]
  • Genetic risks for PAP [ Time Frame: 5 years ]
    Use diagnostic blood spot (DBS) card-based specimens to identify genetic factors that increase risk of developing PAP
  • Sensitivity and Specificity of DBS card GM-CSF autoantibody test for Autoimmune PAP [ Time Frame: 5 years ]


Original Secondary Outcome: Same as current

Information By: Children's Hospital Medical Center, Cincinnati

Dates:
Date Received: May 28, 2015
Date Started: April 2015
Date Completion: July 2020
Last Updated: August 26, 2016
Last Verified: August 2016