Lung Disease and Its Affect on the Work of White Blood Cells in the Lungs
The Role of Conformational Diseases on Macrophage Function
3 other identifiers
observational
220
1 country
1
Brief Summary
The purpose of this study is to look at how Alpha-1-antitrypsin (AAT) deficiency and Cystic Fibrosis (CF) affect white blood cells in the lungs, called macrophages, and their ability to work.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Aug 2007
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
August 9, 2007
CompletedFirst Submitted
Initial submission to the registry
April 25, 2013
CompletedFirst Posted
Study publicly available on registry
May 10, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 20, 2032
ExpectedStudy Completion
Last participant's last visit for all outcomes
July 20, 2033
November 6, 2025
November 1, 2025
25 years
April 25, 2013
November 5, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Evaluation of macrophage function.
From every study participant, we will collect blood from a vein through the placement of an intravenous catheter (IV). We will complete various experiments that will allow us to see how well each participant's macrophage cells are working.
On average, within 30 days from the time the blood is collected.
Secondary Outcomes (3)
Comparison of the amount of alpha-1 antitrypsin in the blood.
On average, within 30 days from the time the blood was collected.
Comparison of the amount of an inflammatory marker in the blood, called C-reactive protein.
On average, within 30 days from the time the blood is collected.
Evaluation of lung function.
On average, within 30 days from the time the testing is completed.
Study Arms (3)
AAT Deficiency
Those diagnosed with Alpha-1 Antitrypsin (AAT) Deficiency. At every study visit, a history and physical exam (H\&P), blood draw, and pulmonary function testing (PFTs) with the use of an albuterol inhaler will be done.
Cystic Fibrosis
Those diagnosed with Cystic Fibrosis (CF) with mutation Delta F508. At every study visit, a history and physical exam (H\&P), blood draw, and pulmonary function testing (PFTs) with the use of an albuterol inhaler will be done.
Without Lung Disease Diagnosis
Those without the diagnosis of AAT Deficiency or CF. At every study visit, a history and physical exam (H\&P), blood draw, and pulmonary function testing (PFTs) with the use of an albuterol inhaler will be done.
Interventions
At every study visit, participant's will be asked about their medical history and will have a physical exam.
At each study visit, participants will have an intravenous catheter (IV) placed in one of their veins and blood will be drawn from the IV for study testing.
At every study visit, participants will have their lung function assessed. This is done by blowing forcefully at least 3 times into a tube. Testing will be done two times; before and after the use of an Albuterol inhaler.
At every study visit, participating subjects will take 2 puffs of an Albuterol inhaler after the first set of PFTs, but before the second set of PFTs. There will be at least a 30 minute period after the use of the Albuterol inhaler and the second set of PFTs.
Eligibility Criteria
Alpha-1 Antitrypsin (AAT) Deficient subjects, Cystic Fibrosis(CF) subjects with mutation Delta F508, and subjects without either diagnosis.
You may qualify if:
- Signed informed consent
- Male or female 18 years of age or older
- Negative pregnancy test for women of childbearing potential
- Hemoglobin \>12.5 g/dl measured on the day of participation
- Negative urine nicotine test
You may not qualify if:
- Pregnancy or breastfeeding
- Weight \< 50 kg
- History of anemia requiring blood transfusions, erythropoietin supplementation, or iron supplementation within the past 36 months
- Known hemoglobin \<12.5 g/dl within the past 90 days
- Systolic blood pressure \> 180 mmHg and/or diastolic blood pressure \>100 mmHg
- Poor venous access
- Large volume blood donation (\>200 ml or 7 ounces) within the previous 56 days (e.g. blood donation for the purposes of blood banking)
- Clinically significant cardiac, hemostatic or neurological impairment or any other significant medical condition that, in the opinion of the investigator would affect subject safety (e.g., recent myocardial infarction, history of prolonged bleeding time, cerebral vascular accident, advanced cancer or uncontrolled medical condition)
- Psychiatric or cognitive disturbance or illness that would affect subject safety
- Current smoker
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Shands at the University of Florida
Gainesville, Florida, 32610, United States
Related Publications (10)
Blank CA, Brantly M. Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency. Ann Allergy. 1994 Feb;72(2):105-20; quiz 120-2.
PMID: 8109800BACKGROUNDYoshida A, Lieberman J, Gaidulis L, Ewing C. Molecular abnormality of human alpha1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency. Proc Natl Acad Sci U S A. 1976 Apr;73(4):1324-8. doi: 10.1073/pnas.73.4.1324.
PMID: 1083527BACKGROUNDJeppsson JO. Amino acid substitution Glu leads to Lys alpha1-antitrypsin PiZ. FEBS Lett. 1976 Jun 1;65(2):195-7. doi: 10.1016/0014-5793(76)80478-4. No abstract available.
PMID: 1084290BACKGROUNDLomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature. 1992 Jun 18;357(6379):605-7. doi: 10.1038/357605a0.
PMID: 1608473BACKGROUNDPerlmutter DH. Liver injury in alpha1-antitrypsin deficiency: an aggregated protein induces mitochondrial injury. J Clin Invest. 2002 Dec;110(11):1579-83. doi: 10.1172/JCI16787. No abstract available.
PMID: 12464659BACKGROUNDHidvegi T, Schmidt BZ, Hale P, Perlmutter DH. Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response. J Biol Chem. 2005 Nov 25;280(47):39002-15. doi: 10.1074/jbc.M508652200. Epub 2005 Sep 23.
PMID: 16183649BACKGROUNDKaufman RJ. Orchestrating the unfolded protein response in health and disease. J Clin Invest. 2002 Nov;110(10):1389-98. doi: 10.1172/JCI16886. No abstract available.
PMID: 12438434BACKGROUNDOda Y, Okada T, Yoshida H, Kaufman RJ, Nagata K, Mori K. Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation. J Cell Biol. 2006 Jan 30;172(3):383-93. doi: 10.1083/jcb.200507057.
PMID: 16449189BACKGROUNDSeager Danciger J, Lutz M, Hama S, Cruz D, Castrillo A, Lazaro J, Phillips R, Premack B, Berliner J. Method for large scale isolation, culture and cryopreservation of human monocytes suitable for chemotaxis, cellular adhesion assays, macrophage and dendritic cell differentiation. J Immunol Methods. 2004 May;288(1-2):123-34. doi: 10.1016/j.jim.2004.03.003.
PMID: 15183091BACKGROUNDNewman BH. Donor reactions and injuries from whole blood donation. Transfus Med Rev. 1997 Jan;11(1):64-75. doi: 10.1016/s0887-7963(97)80011-9.
PMID: 9031492BACKGROUND
Related Links
Biospecimen
Whole blood and plasma.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Karina Serban, MD
University of Florida, College of Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 25, 2013
First Posted
May 10, 2013
Study Start
August 9, 2007
Primary Completion (Estimated)
July 20, 2032
Study Completion (Estimated)
July 20, 2033
Last Updated
November 6, 2025
Record last verified: 2025-11
Data Sharing
- IPD Sharing
- Will share
- Time Frame
- This study is a tissue data bank study and data will not be shared with the public
- Access Criteria
- This is no sharing of data in this tissue banking study, so no share access will be used
Enrolled subjects may request a copy of their clinical testing done while enrolled in the clinical trial. All other data used for publication purposes will be de-identified.