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

Lung Health and 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:

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.

LHC: The American Lung Association (ALA) Lung Health Cohort - Study to establish a national cohort of young adults for the purpose of defining lung health and developing targets to intercept chronic lung disease at its earliest stages.

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:

A1BC: Alpha-1 Biomarker Consortium - Study to identify biomarkers, clinical events, and features in CT imaging that may allow us to identify Alpha-1 patients early before deterioration.

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

GRIFOLS GC2008: Study to evaluate the safety and tolerability of subcutaneous Alpha-1 15% in subjects with Alpha1-Antitrypsin Deficiency (AATD).