Pulmonary alveolar proteinosis.
Bruce C Trapnell, Jeffrey A Whitsett, Koh Nakata
https://pubmed.ncbi.nlm.nih.gov/14695413Actively Recruiting
All Genders
ID02461615
A National Registry For Pulmonary Alveolar Proteinosis
Led by Children's Hospital Medical Center, Cincinnati · Updated on 2026-03-17
500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
C
Children's Hospital Medical Center, Cincinnati
Lead Sponsor
R
Rare Diseases Clinical Research Network
Collaborating Sponsor
AI-Summary
What this Trial Is About
Pulmonary Alveolar Proteinosis (PAP) is a rare condition involving surfactant buildup in the lungs that causes breathing difficulties. This research aims to create a National PAP Registry to improve diagnosis and increase awareness of PAP. The study also focuses on defining the natural course of autoimmune PAP (aPAP), developing a disease severity score, and testing new tools to assess lung disease severity and patient function. These efforts support advancing research and potential therapies for PAP. The study is divided into two parts. Part A establishes the National PAP Registry by enrolling participants with PAP to collect data through questionnaires and at-home blood collection using dried blood spot cards (DBSC). This data helps validate new blood tests for diagnosing autoimmune PAP and identifying genetic risk factors. Part B reviews past medical records of aPAP patients, gathers patient input on symptoms and quality of life, develops a disease severity score combining patient reports and lung function data, and tests a mobile phone app to remotely measure exercise capacity. Participants contribute by completing questionnaires, providing blood samples by mail, and sharing medical records. Researchers evaluate blood tests for autoimmune PAP diagnosis, study disease prevalence, and analyze genetic risks. They also develop tools measuring how patients feel and function, including remote exercise testing. The study monitors participants over approximately five years, aiming to improve understanding, diagnosis, and patient-centered outcome measures for PAP.
CONDITIONS
Brief Title
A National Registry For Pulmonary Alveolar Proteinosis
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Provide written informed consent and assent if applicable
- Have a history of chest CT or chest X-ray findings compatible with PAP
- Have a diagnosis of PAP confirmed by one of the following: abnormal serum GMAb test, lung biopsy showing PAP, bronchoalveolar lavage cytology compatible with PAP, or known genetic mutations causing PAP
- For Part B, have a diagnosis of autoimmune PAP confirmed by abnormal serum GMAb test plus imaging or biopsy compatible with PAP
You will not qualify if you...
- Have a serious medical illness likely to interfere with study completion
- For Part A, individuals without a diagnosis of PAP are excluded
- For Part B, individuals without a diagnosis of autoimmune PAP are excluded
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Monitoring
Duration - Approximately 5 years
Participants diagnosed with pulmonary alveolar proteinosis (PAP) are observed through ongoing collection of questionnaire data and capillary blood samples collected at home using dried blood spot cards (DBSC), which are sent by mail for evaluation. This monitoring supports diagnosis, genetic risk assessment, and research engagement.
Periodic home collection of blood samples and completion of questionnaires
Surveillance
Duration - Approximately 2 years
Participants diagnosed with autoimmune PAP (aPAP) provide retrospective longitudinal medical records and complete symptom and function questionnaires during routine clinic visits. This surveillance helps develop a disease severity score and test mobile phone-based exercise assessments.
Questionnaires completed at routine clinic visits and medical record review
Trial Site Locations
Total: 1 location
1
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
Loading map...
Research Team
B
Brenna C Carey, Ms, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
The molecular basis of pulmonary alveolar proteinosis.
Brenna Carey, Bruce C Trapnell
https://pubmed.ncbi.nlm.nih.gov/20338813Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis.
Kanji Uchida, Koh Nakata, Brenna Carey...
https://pubmed.ncbi.nlm.nih.gov/24275678Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
Takuji Suzuki, Takuro Sakagami, Bruce K Rubin...
https://pubmed.ncbi.nlm.nih.gov/18955570Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations.
T Suzuki, B Maranda, T Sakagami...
https://pubmed.ncbi.nlm.nih.gov/21205713Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy.
Takuji Suzuki, Takuro Sakagami, Lisa R Young...
https://pubmed.ncbi.nlm.nih.gov/20622029