Recruiting

Observational Study

Sponsor:

Children's Hospital Medical Center, Cincinnati

Code:

NCT02461615

Conditions

Pulmonary Alveolar Proteinosis

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Conditions

Pulmonary Alveolar Proteinosis

Study ID

NCT02461615

Start date

Apr, 2015

Status verified date

Mar, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria for Part A and Part B:

  • Written informed consent and assent, if applicable

Inclusion Criteria for Part A (Cross Sectional Study of PAP Syndrome)

  • 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

Inclusion Criteria For Part B (Longitudinal \& PRO Survey Study of autoimmune PAP Patients)

  • 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

Exclusion Criteria or Part A and Part B:

  • 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

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

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 measure

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

Central Contacts and Locations

Central contacts

Brenna C Carey, Ms, PhD

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

Locations

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States, 45229

Contacts

Brenna C Carey, MS, PhD

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

More Information

Sponsor

Children's Hospital Medical Center, Cincinnati

Last update posted

Mar 17, 2026

Last verified

Mar, 2026

Keywords

  • Pulmonary Surfactant
  • Rare Lung Disease
  • Registry

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Children's Hospital Medical Center, Cincinnati on 2026-03-17.