Phase I/2 Study of Intrapleural or Intravenous 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 Save

Date Added
October 25th, 2016
PRO Number
Pro00059083
Researcher
Charlie Strange
Keywords
Genetics, Lung, Pulmonary, Rare Diseases
Summary

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.

Institution
MUSC
Recruitment Contact
Danielle Woodford
843-792-6280
woodfordd@musc.edu

Multicenter International Durability and Safety of Sirolimus in Lymphangioleiomyomatosis (LAM)Trial (MIDAS) Save

Date Added
September 15th, 2016
PRO Number
Pro00059134
Researcher
Charlie Strange
Keywords
Lung, Pulmonary, Rare Diseases
Summary

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.

Institution
MUSC
Recruitment Contact
Suchit Kumbhare
843-792-1219
kumbhare@musc.edu

A Randomized, Parallel-Group, Double-Blind, Placebo-Controlled, Multiple-Dose, Proof of-Concept Study to Evaluate the Efficacy and Safety of Hyaluronic Acid Inhalation Solution for the Treatment of Hereditary Emphysema in Patients with Alpha 1-Antitrypsin Deficiency for 28 days Save

Date Added
March 8th, 2016
PRO Number
Pro00051339
Researcher
Charlie Strange
Keywords
Breathing, Lung, Pulmonary, Rare Diseases, Shortness of Breath
Summary

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.

Institution
MUSC
Recruitment Contact
M. Gwen Blanton
843-276-4523
blantonm@musc.edu

A Phase 3/4 Study to Evaluate the Safety, Immunogenicity, and Effects on the Alpha1-Proteinase Inhibitor (A1PI) Levels in Epithelial Lining Fluid Following GLASSIA Therapy in A1PI-Deficient Subjects Save

Date Added
January 12th, 2016
PRO Number
Pro00046425
Researcher
Charlie Strange
Keywords
Breathing, Lung, Pulmonary, Rare Diseases, Shortness of Breath
Summary

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.

Institution
MUSC
Recruitment Contact
M. Gwen Blanton
843-792-8438
blantonm@musc.edu

LAM Pilot study with imatinib mesylate Save

Date Added
July 21st, 2015
PRO Number
Pro00044389
Researcher
Charlie Strange
Keywords
Genetics, Lung, Pulmonary, Rare Diseases
Summary

The purpose of this medical research study is to evaluate the safety and effectiveness of a new medication called imatinib mesylate in the treatment of Lymphangioleiomyomatosis (LAM). LAM is a rare disease in which abnormal cells (called LAM cells) grow out of control. Over time, LAM cells destroy healthy lung tissue and cause respiratory disease or failure.

Many patients with LAM are currently treated with a medication called sirolimus (rapamycin). Sirolimus slows the growth of LAM cells.

Imatinib mesylate (hereafter called imatinib) is approved by the Food and Drug Administration (FDA) for the treatment of some cancers that share common pathways with LAM cells. Laboratory studies suggest that imatinib could completely block the growth of LAM cells through initiation of targeted cell death.

An important purpose of this research is to determine the safety of imatinib in people with LAM. This study will also evaluate the short-term effectiveness of imatinib. Participants will be randomized to receiving imatinib (study medication) or placebo (no treatment) for the 56 day duration of participation. The study is being conducted at the Medical University of South Carolina and at Columbia Univerity in New York. Each site will enroll 10 participants.

Institution
MUSC
Recruitment Contact
Kimberly Brown
843-792-6474
Brownkl@musc.edu

MUSC Alpha-1 Biorepository Save

Date Added
December 16th, 2014
PRO Number
Pro00039387
Researcher
Charlie Strange
Keywords
Genetics, Liver, Lung, Pulmonary
Summary

This study is recruiting participants who are affected with Alpha-1 Antitrypsin Deficiency (Alpha-1) or are carriers of abnormal Alpha-1 Antitrypsin genes. Participants will be asked to provide a sample of blood that will be stored in a biorepository at the Medical University of South Carolina. Participants will be asked to complete surveys including demographic information and information about medical history and pulmonary disease. Survey information and samples will be linked and stored for use in future research related to Alpha-1 and genomics. Researchers with Alpha-1 related interests may request to use deidentified samples and data from the biorepository. The identity of donors is protected. Participants will not receive individual results; however, the availability of samples from people with rare genetic disease such as Alpha-1 is essential for researchers to better understand disease and risks, recommend risk reduction strategies and develop new treatments.

Institution
MUSC
Recruitment Contact
Kimberly Brown
843-792-6474
BrownKL@musc.edu

Alpha-1 Foundation Clinical Resource Center (CRC) Research Registry Save

Date Added
November 18th, 2014
PRO Number
Pro00026071
Researcher
Charlie Strange
Keywords
Asthma, Breathing, Environmental Factors, Genetics, Liver, Lung, Pulmonary, Rare Diseases, Shortness of Breath
Summary

The purpose of the Alpha-1 Foundation Clinical Resource Center (CRC) Research Registry is to collect and store medical information from individuals with alpha-1 antitrypsin deficiency (AATD or Alpha-1) or individuals that carry a deficient Alpha-1 gene. The Registry will collect medical information on your disease and diagnosis. This information will include family history, lung and liver symptoms, and exposure to cigarette smoke, dusts and fumes.The goal of this project is to obtain and share information that defines the natural history of alpha-1 antitrypsin deficiency. Biological samples from either blood or tissue may be collected and stored as part of this research. This project will assemble a library of these biological samples, some of which will be saved at MUSC.

Institution
MUSC
Recruitment Contact
Eryn Varano
877-886-2383
alphaone@musc.edu

Alpha-1 Coded Testing Study (Pilot ACT Study) Save

Date Added
October 5th, 2009
IRB Number
9556
Researcher
Charlie Strange
Keywords
Asthma, Breathing, Liver, Lung, Pulmonary, Rare Diseases, Shortness of Breath
Summary

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a hereditary condition that is passed on from parents to their children through genes. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults.
Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver. The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke.
The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a build up of abnormal AAT in the liver that can cause liver disease. Finding out the test results early may affect the onset and progression of the disease.

The Alpha-1 Coded Testing (ACT) Study offers free and confidential finger stick testing for Alpha-1 Antitrypsin Deficiency. The test can be completed at home and results are mailed to the participant's home. This test is available through a research study, the Alpha-1 Coded Testing (ACT) Study. The Study investigates people's thoughts and feelings about the risks and benefits associated with learning genetic information. Anyone over age 18 can request to be tested. Participants or the participant's guardian must sign a consent form, fill in a questionnaire, and allow for recontact in the future. Full details are available in the consent form.

Institution
MUSC
Recruitment Contact
Laura Schwarz
843-792-0260 or 1-877-886-2383
alphaone@musc.edu

Alpha-1 Foundation Registry Save

Date Added
October 5th, 2009
IRB Number
9059
Researcher
Charlie Strange
Keywords
Asthma, Breathing, Liver, Lung, Pulmonary, Rare Diseases, Shortness of Breath
Summary

The Alpha-1 Research Registry is a confidential database of individuals with Alpha-1 Antitrypsin Deficiency (Alpha-1) or a carrier phenotype. Alpha-1 is a genetic disorder associated with chronic obstructive pulmonary disease (COPD) and liver disease. The goal of the Registry is to facilitate Alpha-1 research by providing investigators with a group of Alphas and carriers willing to consider participation in research. Because the clinical, basic science and epidemiological research agenda in Alpha-1 Antitrypsin Deficiency is moving at a rapid pace, patient participation in research has never been more critical than it is today. Since Alpha-1 is a rare disease, the ability to contact a large number of Alphas increases the likelihood of research in Alpha-1 and the Registry's desirability as a study tool. Your participation aids us in the common goal to find a cure for Alpha-1 Antitrypsin Deficiency.

WHO IS ELIGIBLE?
Membership in the Alpha-1 Research Registry is currently open to individuals with Alpha1-Antitrypsin Deficiency (AAT Deficiency or Alpha-1) and to carriers of the alpha1-antitrypsin (AAT) gene. Individuals unsure of their Alpha status should consider free confidential testing through the Alpha Coded Testing Trial.

If you know you have Alpha-1 or are a carrier of the AAT gene but do not know your phenotype (the individual letters of the Alpha-1 genes), the Registry staff is happy to speak with you and facilitate phenotyping if necessary.

Institution
MUSC
Recruitment Contact
Eryn Varano
843-792-1219
alphaone@musc.edu

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