The Role of Conformational Diseases on Macrophage Function

  • End date
    Jul 20, 2023
  • participants needed
  • sponsor
    University of Florida
Updated on 13 October 2022
pulmonary function test
pulmonary disease
lung disease
alpha1-proteinase inhibitor (human)
Accepts healthy volunteers


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.

Condition Alpha-1 Antitrypsin Deficiency, AAT Deficiency, AATD, Cystic Fibrosis (CF)
Treatment History and physical exam., Blood draw., Pulmonary function testing., Albuterol inhaler.
Clinical Study IdentifierNCT01851642
SponsorUniversity of Florida
Last Modified on13 October 2022


Yes No Not Sure

Inclusion Criteria

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

Exclusion Criteria

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
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