NCT02461615

Brief Summary

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

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
500

participants targeted

Target at P75+ for all trials

Timeline
56mo left

Started Apr 2015

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress71%
Apr 2015Dec 2030

Study Start

First participant enrolled

April 1, 2015

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

May 28, 2015

Completed
6 days until next milestone

First Posted

Study publicly available on registry

June 3, 2015

Completed
15.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2030

Last Updated

March 17, 2026

Status Verified

March 1, 2026

Enrollment Period

15.7 years

First QC Date

May 28, 2015

Last Update Submit

March 16, 2026

Conditions

Pulmonary Alveolar Proteinosis

Keywords

Pulmonary SurfactantRare Lung DiseaseRegistry

Outcome Measures

Primary Outcomes (1)

  • DBS card GM-CSF autoantibody levels to diagnose Autoimmune PAP

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

    5 years

Secondary Outcomes (6)

  • Prevalence of Autoimmune PAP

    5 years

  • Genetic risks for PAP

    5 years

  • Sensitivity and Specificity of DBS card GM-CSF autoantibody test for Autoimmune PAP

    5 years

  • Retrospective, longitudinal, chart-based natural history study of aPAP

    2 years

  • Autoimmune Pulmonary Alveolar Proteinosis-Disease Severity Score

    2 years

  • +1 more secondary outcomes

Study Arms (1)

Registry Participants

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

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with Pulmonary Alveolar Proteinosis (Part A) Patient with Autoimmune Pulmonary Alveolar Proteinosis (Part B)

You may qualify if:

  • 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

You may not qualify if:

  • 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.
  • For Part A (Cross-sectional Study of PAP Syndrome)
  • Individuals that do not have a diagnosis of PAP
  • For Part B (Longitudinal \& PRO Survey Study of autoimmune PAP Patients)
  • Individuals that do not have a diagnosis of autoimmune PAP

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Related Publications (6)

  • Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med. 2003 Dec 25;349(26):2527-39. doi: 10.1056/NEJMra023226. No abstract available.

    PMID: 14695413BACKGROUND

  • Carey B, Trapnell BC. The molecular basis of pulmonary alveolar proteinosis. Clin Immunol. 2010 May;135(2):223-35. doi: 10.1016/j.clim.2010.02.017. Epub 2010 Mar 25.

    PMID: 20338813BACKGROUND

  • Uchida K, Nakata K, Carey B, Chalk C, Suzuki T, Sakagami T, Koch DE, Stevens C, Inoue Y, Yamada Y, Trapnell BC. Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis. J Immunol Methods. 2014 Jan 15;402(1-2):57-70. doi: 10.1016/j.jim.2013.11.011. Epub 2013 Nov 23.

    PMID: 24275678BACKGROUND

  • Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008 Nov 24;205(12):2703-10. doi: 10.1084/jem.20080990. Epub 2008 Oct 27.

    PMID: 18955570BACKGROUND

  • Suzuki T, Maranda B, Sakagami T, Catellier P, Couture CY, Carey BC, Chalk C, Trapnell BC. Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. Eur Respir J. 2011 Jan;37(1):201-4. doi: 10.1183/09031936.00090610. No abstract available.

    PMID: 21205713BACKGROUND

  • Suzuki T, Sakagami T, Young LR, Carey BC, Wood RE, Luisetti M, Wert SE, Rubin BK, Kevill K, Chalk C, Whitsett JA, Stevens C, Nogee LM, Campo I, Trapnell BC. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med. 2010 Nov 15;182(10):1292-304. doi: 10.1164/rccm.201002-0271OC. Epub 2010 Jul 9.

    PMID: 20622029BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Capillary blood samples on diagnostic blood spot cards may be retained.

MeSH Terms

Conditions

Pulmonary Alveolar Proteinosis

Condition Hierarchy (Ancestors)

Lung DiseasesRespiratory Tract Diseases

Study Officials

  • Bruce C Trapnell, MD

    Children's Hospital Medical Center, Cincinnati

    STUDY CHAIR

Central Study Contacts

Brenna C Carey, Ms, PhD

CONTACT

513-636-8916Brenna.Carey@cchmc.org

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
PROSPECTIVE
Target Duration
5 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 28, 2015

First Posted

June 3, 2015

Study Start

April 1, 2015

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Last Updated

March 17, 2026

Record last verified: 2026-03

Locations

US(1)