Clinical Research

Our clinical research disease focus areas include Acute Respiratory Distress Syndrome (ARDS), Sarcoidosis, Idiopathic Pulmonary fibrosis (IPF), Pulmonary Hypertension (PH), Sickle Cell Disease (SCD), Asthma and Alpha-1 Antitrypsin Deficiency (A1ATD).  Our mission is to better understand the underlying pathogenic and molecular basis of these diseases, to correlate gene expression patterns with molecular phenotypes, to decipher disease outcomes and prognosis to help develop novel alternative therapies.

GRADS – Sarcoidosis Study (open for enrollment)

Sarcoidosis is a systemic disease characterized by the formation of granulomatous lesions, especially in the lungs, liver, skin, and lymph nodes; it has a heterogeneous set of clinical manifestations and a variable course for which there is not efficient long term therapies. The purpose of this study is to analyze the distinct patterns in lung microbiome (microorganisms) characteristic of Sarcoidosis and changes in the genes that impact the inflammatory response.

Additional Information:

GRADS – Alpha-1 Antitrypsin Deficiency Study (open for enrollment):

Alpha-1 Antitrypsin Deficiency is a genetic condition that predisposes to early onset pulmonary emphysema and airways obstruction, often indistinguishable from usual smoker's chronic obstructive pulmonary disease. The purpose of this study is to study the airway and lung microorganisms in people with Alpha-1 Antitrypsin Deficiency or individuals in the carrier status and the inflammatory response.

Additional Information:

Genomic Association and Biomarkers Study (open for enrollment):

The purpose of this study is to gather a large scale sample collection that enable us to link clinical information on health and disease status and disease progression to biological samples, allowing us to test a broad range of markers in proteomic and genomic investigations. We propose to develop a database with the collection of stored samples (including whole blood, DNA, RNA, plasma, and serum) as well as a clinical database that can be utilized by University of Arizona faculty, fellows and their collaborators to investigate the relationship between biomarkers status and progression of diseases of interest.  It is essential to collect a wide variety of samples to be a valuable resource for future studies.  Study participants (including healthy individuals) will be consented during their clinic visit at University of Arizona Health Network (UAHN) or while admitted to University of Arizona Medical Center (UAMC). A total of 1000 subjects per year are being requested. Blood samples will be drawn either during a standard of care blood draw or from an existing central.  The subject will undergo no additional venipuncture for this draw.

Phase II Clinical Trial of Novel Therapies for Lung Disease*:

This ancillary study is part of the clinical trial proposed to examine the hypothesis that exposure to low concentration of inhaled carbon monoxide (CO) will slow or arrest the progression of the lung fibrosis in patients with idiopathic pulmonary fibrosis (IPF). In this study we will test the hypothesis that specific genomic signatures with in peripheral blood mononuclear cells (PBMC) predict the response to CO therapy in patients with IPF.  Specific Aims include:

  1. To Evaluate and identify the genomic signature in PBMCs reflecting altered physiologic and biochemical prognostic markers in patients with IPF.
  2. To identify PBMCs genes reflecting biologic responses to CO inhalation exposure.
  3. To characterize a PBMC genomic signature as a clinically-relevant predictive biomarker of CO responsiveness in patients with IPF.

*This study has completed the enrollment phase.

Use of ACCESS DNA Samples for Genetic Analysis of Sarcoidosis*:

Sarcoidosis is a granulomatous disease primarily affecting the lung, although extrapulmonary manifestations are common. The disease is widely heterogeneous in terms of presenting symptoms. The disease is characteristically prevalent in women and ethnic minorities; the female:male risk ratio is 1.3 while African Americans are 4.7 times more likely to have the disease when compared to Caucasians. Also ethnic minorities tend to have it present with more severe symptoms and faster disease progress. Despite many years of clinical research experience, etiology of sarcoidosis remains obscure and many gaps exist regarding the factors that influence the disease course and progression as well as the optimal treatment options. In particular, we are interested in the health disparity aspect of sarcoidosis. In the proposed study we will address some of these important issues. Study Aims include:

  1. We will identify common genetic variants that act as risk factors for susceptibility to sarcoidosis and  
  2. the genetic factors responsible for the observed ethnic disparities in both disease prevalence and familial heritability of sarcoidosis
  3. We will identify common genetic variants that influence the clinical course and prognosis/therapeutic selection of affected patients

*This study has completed the enrollment phase.

Regulation of Asthmatic Inflammation by non-muscle MLCK*:

Asthma is a complex, multifactorial inflammatory lung disorder that  is influenced by both genetic and environmental factors. The key pathophysiologic features of asthma include evidence of acute and chronic lung inflammation with airway hyperresponsiveness, airway remodeling and increased vascular permeability. Although the genetic determinants of this complex disorder remain elusive, we recently demonstrated that MYLK, the gene encoding the critical cytoskeletal effector, myosin light chain kinase (MLCK), is a proven susceptibility gene in asthma with a specific non-synonymous coding polymorphism (Pro147Ser) strongly associated with severe asthma susceptibility in African Americans and Afro-Caribbeans.  The purpose is to study the association of MYLK single nucleotide polymorphisms (SNPs) with asthma and severe asthma in African-American case-control samples.

*This study has completed the enrollment phase.

For additional information on any of the above clinical studies, please contact Nancy Casanova at