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| ID | Type | Description | Link |
|---|---|---|---|
| 699 | Other Identifier | Shands UF Clinical Research Center | |
| 08-2007 | Other Identifier | University of Florida |
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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.
AAT deficiency is a genetic disorder that affects around 100,000 people in the USA, including 1-3% of all people diagnosed with chronic obstructive pulmonary disease (COPD). In AAT deficient people diagnosed with COPD, it was originally believed the cause of the disease was due to a lack of supply of alpha-1 antitrypsin. However, early information gathered in our laboratory suggests another cause of the development of COPD and the progressing of the disease may be due to a malfunction in macrophages.
CF is also a genetic disorder which affects 1/300 births among the Caucasian population. One of the main symptoms of CF is inflammation of the lung tissue. Lung macrophages play a major role in lung inflammation as well as in helping to resolve the inflammation.
Inflammation is an important defense of the body. It is the body's response to infection causing germs and things that may cause irritation, as well as, a way for the body to repair damaged tissue.
We suggest that the effects of AAT deficiency and CF decreases the inflammation response in the lungs and also restricts the ability of macrophages to correct that inflammation once it occurs.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| History and physical exam. | Procedure | At every study visit, participant's will be asked about their medical history and will have a physical exam. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Comparison of the amount of alpha-1 antitrypsin in the blood. | From every study participant, we will collect blood from a vein through an IV. | 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. |
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Inclusion Criteria:
Exclusion Criteria:
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Alpha-1 Antitrypsin (AAT) Deficient subjects, Cystic Fibrosis(CF) subjects with mutation Delta F508, and subjects without either diagnosis.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Allison E. Faunce, B.A. | Contact | 352-273-8666 | Allison.Faunce@medicine.ufl.edu | |
| Michelle Owens, RN, BSN | Contact | 352-273-6339 | Sandra.Owens@medicine.ufl.edu |
| Name | Affiliation | Role |
|---|---|---|
| Karina Serban, MD | University of Florida, College of Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Shands at the University of Florida | Recruiting | Gainesville | Florida | 32610 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 8109800 | Background | 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. | |
| 1083527 | Background | Yoshida 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. |
| Label | URL |
|---|---|
| University of Florida, Division of Pulmonary Medicine, Critical Care \& Sleep Medicine | View source |
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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.
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This study is a tissue data bank study and data will not be shared with the public
This is no sharing of data in this tissue banking study, so no share access will be used
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| ID | Term |
|---|---|
| D019896 | alpha 1-Antitrypsin Deficiency |
| D003550 | Cystic Fibrosis |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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| ID | Term |
|---|---|
| D055991 | Health Records, Personal |
| D012149 | Restraint, Physical |
| D001800 | Blood Specimen Collection |
| D018962 | Phlebotomy |
| D012143 | Respiratory Physiological Phenomena |
| D000420 | Albuterol |
| D017265 | Procaterol |
| ID | Term |
|---|---|
| D008499 | Medical Records |
| D011996 | Records |
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
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Whole blood and plasma.
|
| Blood draw. | Procedure | 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. |
|
|
| Pulmonary function testing. | Procedure | 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. |
|
|
| Albuterol inhaler. | Drug | 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. |
|
|
From every study participant, we will collect blood from a vein through and IV. |
| On average, within 30 days from the time the blood is collected. |
| Evaluation of lung function. | Lung function testing will be done on every study participant. This is is done by forcefully blowing into a tube on at least 3 separate occasions. Albuterol, an inhaled medication used to expand lung airways, will be given after lung function testing and then the testing will be repeated after 30 minutes. | On average, within 30 days from the time the testing is completed. |
| 1084290 | Background | Jeppsson 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. |
| 1608473 | Background | Lomas 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. |
| 12464659 | Background | Perlmutter 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. |
| 16183649 | Background | Hidvegi 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. |
| 12438434 | Background | Kaufman 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. |
| 16449189 | Background | Oda 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. |
| 15183091 | Background | Seager 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. |
| 9031492 | Background | Newman 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. |
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D013352 | Subcutaneous Emphysema |
| D004646 | Emphysema |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D010182 | Pancreatic Diseases |
| D007232 | Infant, Newborn, Diseases |
| D008919 |
| Investigative Techniques |
| D032763 | Behavior Control |
| D013812 | Therapeutics |
| D007103 | Immobilization |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D002943 | Circulatory and Respiratory Physiological Phenomena |
| D004983 | Ethanolamines |
| D000605 | Amino Alcohols |
| D000438 | Alcohols |
| D009930 | Organic Chemicals |
| D000588 | Amines |
| D010627 | Phenethylamines |
| D005021 | Ethylamines |
| D006912 | Hydroxyquinolines |
| D011804 | Quinolines |
| D006574 | Heterocyclic Compounds, 2-Ring |
| D000072471 | Heterocyclic Compounds, Fused-Ring |
| D006571 | Heterocyclic Compounds |