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Rare lung disease tissue

Rare Lung Disease and COPD Research Group

Lymphangioleiomyomatosis (LAM) Research

Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in cystic lung destruction. It predominantly affects women, especially during childbearing years.Here at MUSC we follow >20 patients and are currently conducting two LAM studies:

MIDAS: Safety and Durability of Sirolimus for Treatment of LAM – Study to determine if the drugs sirolimus and/or everolimus delay disease progression in people with LAM

LAMP-1: LAM Pilot Study With Imatinib Mesylate – Phase 1 clinical trial comparing imatinib mesylate to placebo on the primary outcome of log transformed serum VEGF-D levels in patients with LAM

COPD Research

Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory lung disease that causes obstructed airflow from the lungs. Symptoms include breathing difficulty, cough, mucus (sputum) production and wheezing. We run a combination of weight loss in COPD, HIV in COPD, and Bronchoscopic Lung Volume Reduction studies (BLVR). We have studies currently enrolling or in analysis stages:

HOPE: HIV-associated Obstructive Pulmonary Disease and Emphysema – The purpose of this study is to determine whether emphysema in HIV+ patients is clinically and biologically different compared to emphysema in those without HIV

INSIGHT: INtervention Study In overweiGHT patients with COPD – Study trying to determine if a lifestyle program that promotes modest weight loss and increased physical activity will improve COPD symptoms for those with a high BMI

RELIANCE: RofLumilast or Azithromycin to preveNt COPD Exacerbations – Study comparing the two drugs Roflumilast and Azithromycin. The study will look to see if Azithromycin is as good as Roflumilast in preventing COPD attacks and thereby decreasing hospital visits

SPRAY-CB: RejuvenAir® System Trial for COPD with Chronic Bronchitis – Study to determine the safety and effectiveness of a new device called the RejuvenAir® System, developed for patients with chronic bronchitis. The RejuvenAir® System delivers liquid nitrogen through a catheter to instantly freeze the lining of the airways. Cryotherapy with this system is designed to induce a regenerative endobronchial tissue effect.

AIRFLOW-3: Evaluation of the Safety and Efficacy of Nuvaira Targeted Lung Denervation (TLD) in Patients with COPD – Study evaluating the efficacy of targeted lung denervation (TLD) in addition to optimal medical care to reduce moderate or severe exacerbation’s and related hospitalizations compared with optimal medical care alone, in patients with COPD.

Alpha-1 Antitrypsin Deficiency Research

Alpha-1 Antitrypsin Deficiency is a genetic disorder that may result in lung disease and/or liver disease. Complications may include COPD, cirrhosis, neonatal jaundice, or panniculitis. A1AD is due to a mutation in the SERPINA1 gene that results in not enough alpha-1 antitrypsin (A1AT). Here at MUSC we run the Alpha-1 Coded Testing (ACT) program, which is a free and confidential way to test for Alpha-1 Antitrypsin Deficiency. MUSC also houses the Alpha-1 Research Registry. The registry allows patients to enroll and stay up to date with current research in the field. The Alpha-1 Research page, which includes current research studies being done:

ACT: The Alpha-1 Coded Testing Study - Free and confidential at-home genetic testing for alpha-1 antitrypsin deficiency

ATALANTa: Alvelestat for the Treatment of Alpha-1 ANTitrypsin Deficiency - This study will test how the pill Alvelestat affects lung damage related to alpha-1 antitrypsin deficiency

ARROWHEAD: The study will evaluate whether the investigational drug, ARO-AAT injection, reduces the production of the Z alpha-1 antitrypsin (AAT) protein in alpha-1 antitrypsin deficiency

GRADS: Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis – The purpose of this study was to identify the types of microorganisms in the lungs and other tissues of people with Alpha-1 or the carrier state who are on standard augmentation therapy compared to those not on standard augmentation therapy.

Alpha-1 & LAM Current Team Members

Director: Charlton B. Strange, M.D., Professor

Co-Investigator: Tatsiana Beiko, M.D., Assistant Professor

Lab Manager: Danielle Woodford
woodfordd@musc.edu
843-792-6280

COPD Current Team Members

Director: Charlton B. Strange, M.D., Professor

Co-Investigator: Nicholas J. Pastics, Jr., M.D., Associate Professor

Co-Investigator: Tatsiana Beiko, M.D., Assistant Professor

Lab Manager: Danielle Woodford
woodfordd@musc.edu
843-792-6280

Study Coordination Staff:

Gwen Blanton
Program Coordinator
blantonm@musc.edu
843-792-8483

Whitney Billingsley
Program Coordinator I
lanewh@musc.edu
843-792-5556

Summer Blair
Student Research Assistant
blairsu@musc.edu

Kim Foil
Genetic Counselor
foilk@musc.edu
843-792-6474 

Brooke Patton
Student Research Assistant
pattonb@musc.edu

Laura Schwarz
Research Coordinator
schwarzl@musc.edu
843-792-0260

Eryn Varano
Program Coordinator
varanoe@musc.edu
843-792-2121