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Trial record 9 of 133 for:    PAP children

A National Registry For Pulmonary Alveolar Proteinosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02461615
Recruitment Status : Recruiting
First Posted : June 3, 2015
Last Update Posted : February 1, 2019
Rare Diseases Clinical Research Network
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Children's Hospital Medical Center, Cincinnati

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.

Condition or disease
Pulmonary Alveolar Proteinosis

Detailed Description:
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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: A National Registry For Pulmonary Alveolar Proteinosis
Study Start Date : April 2015
Estimated Primary Completion Date : July 2019
Estimated Study Completion Date : July 2020

Registry Participants
All participants who participate in the National PAP Registry will be put into this cohort and observed over approximately 5 years.

Primary Outcome Measures :
  1. 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

Secondary Outcome Measures :
  1. Prevalence of Autoimmune PAP [ Time Frame: 5 years ]
  2. 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

  3. Sensitivity and Specificity of DBS card GM-CSF autoantibody test for Autoimmune PAP [ Time Frame: 5 years ]

Biospecimen Retention:   Samples With DNA
Capillary blood samples on diagnostic blood spot cards may be retained.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Pulmonary Alveolar Proteinosis

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02461615

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Contact: Brenna C Carey, Ms, PhD 513-636-8916

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United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Brenna C Carey, MS, PhD    513-636-8916   
Sponsors and Collaborators
Children's Hospital Medical Center, Cincinnati
Rare Diseases Clinical Research Network
National Heart, Lung, and Blood Institute (NHLBI)
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Study Chair: Bruce C Trapnell, MD Children's Hospital Medical Center, Cincinnati

Additional Information:


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Responsible Party: Children's Hospital Medical Center, Cincinnati Identifier: NCT02461615     History of Changes
Other Study ID Numbers: 2015-2214
U54HL127672 ( U.S. NIH Grant/Contract )
First Posted: June 3, 2015    Key Record Dates
Last Update Posted: February 1, 2019
Last Verified: January 2019

Keywords provided by Children's Hospital Medical Center, Cincinnati:
Pulmonary Surfactant
Rare Lung Disease

Additional relevant MeSH terms:
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Pulmonary Alveolar Proteinosis
Lung Diseases
Respiratory Tract Diseases