This study is designed to follow individuals who participated in "Phase 1/2 Study of Intravenous or Intrapleural Administration of a Serotype rh.10 Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human Alpha-1 Antitrypsin cDNA to Individuals with Alpha-1 Antitrypsin Deficiency" for 5 years after receiving treatment.
The goal of this study is to develop an early systemic sclerosis (SSc) registry in the United States (US). A registry is a group of patients that are observed over time. This is a non-interventional study, meaning that they are no study specific medications to take or procedures to undergo. The specific aims include ongoing assessment of the natural history of early SSc patients by capturing and analyzing clinical data, patient reported outcomes, and laboratory data. This is a multi-center study with sites spread across the U.S. This study is funded by the Scleroderma Research Foundation.
This research studies the effects of brain stimulation (transcranial magnetic stimulation, or "TMS") on balance in progressive supranuclear palsy (PSP). The purpose of this research is to look for improvements in balance when subjects are on a tilting platform after stimulating the brain with a magnetic wand held over the scalp over an area at the back of the brain called the cerebellum. Participants will receive both active and inactive stimulation during the course of the study. There is no surgery involved. There are also optional portions of the study that include functional magnetic resonance imaging (fMRIs) and speaking samples.
This is a first-in-humans gene therapy study for subjects diagnosed with severe hemophilia A. A one time infusion of the gene therapy product (BAX888) will be given with the hope of eliminating or reducing the need for prophylactic and/or on-demand use of FVIII concentrate therapy. Up to 10 subjects will be enrolled study-wide with up to two subjects enrolled at MUSC. This study will require weekly visits to the study clinic after initial infusion for the first 15 weeks followed by monthly visits for the first year. Compensation will be provided.
This study examines eye movements and the pupil's response to light in progressive supranuclear palsy (PSP), comparing to Parkinson's disease and control subjects without neurological disease. Computerized measures of eye movements and pupil changes will be used. Subjects will also receive an eye exam to rule out other eye diseases. The goal of this study is to use subtle changes in eye movements and the pupil's response to light for earlier diagnosis of PSP.
Protein S is a protein that is very important to the blood clotting process. When people don't have enough Protein S they run the risk of developing blood clots. This study is collecting samples from people who may have abnormal Protein S levels in order to develop a new way of checking the Protein S levels. This test is looking specifically for FREE Protein S. The free protein S is Protein S that is not bound or "tied up" and is therefore more ready to do its job in the clotting process.
Alpha-1 antitrypsin (Alpha-1, AAT) deficiency is an inherited disease which results from a defect in the alpha-1 gene. Severe AAT deficiency causes emphysema predominant chronic obstructive pulmonary disease (COPD). This is a first in man study of gene therapy to insert a normal Alpha-1 gene into the cells of the body and attempt to make a normal Alpha-1 antitrypsin protein. The purpose of this Phase I/II study is to test the safety of a new gene therapy called AAVrh.10h ?1AT. This gene therapy uses a viral vector called Adeno-Associated Virus to insert the normal Alpha-1 gene into the cells of the body when the vector is placed into the bloodstream or pleural space.
Lymphangioleiomyomatosis (LAM) is a rare lung disease that is caused by genetic mutations. It results in the uncontrolled growth and proliferation of an atypical smooth muscle cells in the lung. These cells invade airways, blood vessels, and lymph vessels, and limit the flow of air, blood, and lymph, respectively. The source of the cells is unknown, but available evidence indicates they arise from an extrapulmonary source. Their aberrant behavior is due to mutations in tuberous sclerosis genes that results in mTOR activation. Respiratory failure, lung collapse (pneumothorax), and pleural effusions (chylothorax) are hallmarks of the disease. This study will evaluate the safety and durability of the mTOR inhibitors sirolimus and everolimus, which are FDA approved medications for prevention of rejection of transplanted organs, in stabilizing or improving lung function in people in LAM.
Individuals with a confirmed diagnosis of alpha-1 antitrypsin (AAT) deficiency and emphysema will be invited to participate in this study. This study will determine the safety and effectiveness of Inhaled Hyaluronic Acid solution as a possible treatment of emphysema in AATD patients. A participant in this study will be asked to inhale the study medication or a placebo delivered by a nebulizer twice a day for 28 days. Neither the study investigators nor the participant will know if they are receiving active drug or placebo. Safety and side effects of all therapies will be monitored.
Individuals with alpha-1 antitrypsin (AAT) deficiency (AAT blood level lower than 11 micro-moles) and emphysema will be invited to participate in this study. This study will determine the impact of IV Alpha-1 proteinase inhibitor (Alpha-1 MP) on the progression of emphysema in patients with AAT deficiency. A participant in this study would receive either GLASSIA dosed at 60mg/kg with a high particle load or GLASSIA dosed at 60mg/kg with a low particle load. Neither the study investigators nor the participants will know which batch of drug is actual given to the participant. Participants will have the IV therapies given to them weekly for 25 weeks, with some infusions given at MUSC and some at home. Safety and side effects of all therapies will be monitored.