Cincinnati, Ohio 45229


Purpose:

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.


Study 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 autoimmune PAP, 3) increase communication and knowledge about PAP-causing diseases, PAP research advances, and future research studies among PAP patients, healthcare providers, the medical community, the PAP Foundation, the Translational Pulmonary Science Center (TPSC) and the general public, 4) evaluate the ability of DBSC-based test to correctly identify genetic factors that increase the risk of developing PAP; and 5) to evaluate the ability of the DBSC GMAb Test to correctly identify autoimmune PAP among people with PAP of any type, or another lung diseases, and healthy controls. The target population is any person diagnosed with PAP. The study design will involve recruitment, screening, and enrollment of Participants via short telephone-based study visits, completion of questionnaires, and collection of capillary blood from the fingertip by Participants in their home using a DBSC, which are then sent by US mail to the TPSC for evaluation. The experimental approach will compare GMAb levels from DBSCs from Participants diagnosed with PAP and determine the fraction of autoimmune PAP patients among individuals with PAP. DBSC-based genetic testing will be compared to current blood-based methods for identification of known genetic risk factors for developing PAP. Lastly, DBSC GMAb values will be compared to GMAb values from healthy and lung disease controls to determine the ability of the DBSC GMAb test to identify patients with autoimmune PAP. Anticipated results will establish a National PAP registry, validate tests for diagnosis of diseases causing PAP in more than 90% of patients, increase awareness and understanding of PAP among patients and healthcare providers, and provide for a patient voice in PAP research. These results will impact the field by: 1) transforming how PAP is diagnosed, 2) increasing access to diagnostic testing - of special importance to those in remote locations, and 3) engaging PAP patient and healthcare communities in planning and implementing PAP research including a prospective natural history study and clinical trials evaluating several potential, disease-specific therapies.


Criteria:

Inclusion Criteria: - Written informed consent and assent if necessary - 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 Exclusion Criteria: - Individuals that do not have a diagnosis of PAP - Individuals who have a serious medical illness that, in the opinion of the investigator, is likely to interfere with completion of the study will be excluded.


NCT ID:

NCT02461615


Primary Contact:

Study Chair
Bruce C Trapnell, MD
Children's Hospital Medical Center, Cincinnati

Brenna C Carey, Ms, PhD
Phone: 513-636-8916
Email: Brenna.Carey@cchmc.org


Backup Contact:

N/A


Location Contact:

Cincinnati, Ohio 45229
United States

Brenna C Carey, MS, PhD
Phone: 513-636-8916
Email: Brenna.Carey@cchmc.org

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: November 23, 2017

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