National registry for pulmonary alveolar proteinosis

A National Registry For Pulmonary Alveolar Proteinosis

This study is creating a national registry for people with pulmonary alveolar proteinosis to help improve diagnosis, treatment, and understanding of this rare lung disease.

Quick facts

• Study type: Observational
• Enrollment: 500 (estimated)
• Sex: All
• Sponsor: Children's Hospital Medical Center, Cincinnati (Academic / other)
• Locations: 1 site (Cincinnati, Ohio)
• Trial ID: NCT02461615 on ClinicalTrials.gov

What this trial studies

This study aims to establish a National Registry for Pulmonary Alveolar Proteinosis (PAP) to enhance the diagnosis and treatment of this rare lung disease. It will collect data to improve awareness and knowledge of PAP, allowing patients to participate in research planning and clinical testing of new therapies. The study will also define the natural history of autoimmune PAP and develop tools to measure disease severity based on patient experiences. By utilizing new blood-based tests, the registry seeks to identify the underlying causes of PAP more effectively than current methods.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with pulmonary alveolar proteinosis or those showing compatible symptoms on imaging studies.

Not a fit: Patients without a confirmed diagnosis of pulmonary alveolar proteinosis or those who do not meet the inclusion criteria will not benefit from this study.

Why it matters

Potential benefit: If successful, this registry could lead to improved diagnostic methods and new treatment options for patients with pulmonary alveolar proteinosis.

How similar studies have performed: Other studies focusing on rare lung diseases have shown success in establishing registries and improving patient outcomes, indicating a promising approach.

Eligibility criteria

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

Where this trial is running

Cincinnati, Ohio

• Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (Recruiting)

Study contacts

• Study coordinator: Brenna C Carey, Ms, PhD

Conditions Pulmonary Alveolar Proteinosis; Pulmonary Surfactant; Rare Lung Disease; Registry