Researchers
Participate in Research Programs
What is a clinical trial?
Clinical trials are research studies performed on human subjects. Studies conducted on animals, in test tubes, or using various other laboratory techniques are often called basic research. Clinical trials may include studies to evaluate the course of a disease, the cause of a disease or the treatment of a disease.
The testing of new drugs or therapies is often the most visible and tantalizing of the types of clinical trials. In the US, clinical trials that evaluate a new drug or pharmaceutical therapy fall under very strict regulations by the Food and Drug Administration (FDA). The FDA decides whether the studies performed demonstrate sufficient beneficial effect on the disease and are sufficiently safe to warrant broad distribution of the drug to patients.
There are numerous clinical trials going on in AAT that do not involve the testing of new drugs or therapies, many supported by the Alpha-1 Foundation.
Following is some information on research programs and resources that are supported by the Alpha-1 Foundation:
Alpha-1 Research Registry Program at the Medical University of South Carolina
The Alpha-1 Research Registry is a confidential database of individuals diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and persons identified as Alpha-1 carriers. It serves as a resource for investigators seeking individuals with Alpha-1 to participate in clinical trials, surveys, and other scientific and medical data collection activities. The Registry’s Family Linkage Program facilitates genetic research and other studies requiring family member participation while protecting the privacy and autonomy of each family member. The Registry is also a vital component to other Alpha-1 research endeavors such as the Alpha-1 Coded Testing (ACT) Study and Genetic Modifiers Study. The Registry is conducted under the direction of Charlie Strange, M.D. at the Medical University of South Carolina. For more information about the Registry Program, you may visit the website at www.alphaoneregistry.org, email at alphaone@musc.edu or call toll free at 1-877-886-2383.
The Alpha-1 Coded Testing (ACT) Study at the Medical University of South Carolina
The goal of the ACT Study is to provide free, confidential testing services and facilitate research on genetic testing. The test is administered through a research study which evaluates perceived risks and benefits of genetic testing. Anyone can request to be tested. The ACT Study provides a way for family members of Alphas and others at risk to learn their alpha-1 genotype. Enrollment into this Study may end at any time. The ACT Study is conducted under the direction of Charlie Strange, M.D. at the Medical University of South Carolina. For more information about the ACT Study, you may visit the website at www.alphaoneregistry.org, email at alphaone@musc.edu or call toll free at 1-877-886-2383.
The Alpha-1 Antitrypsin Deficiency Detection (Alpha-1 Detection) Laboratory for the Alpha-1 Coded Testing (ACT) Study at the University of Florida
The Alpha-1 Detection Laboratory for the ACT Study performs testing services on blood samples submitted at the Medical University of South Carolina for the ACT Study. The Alpha-1 Detection Laboratory determines the genotype and alpha-1 antitrypsin level of each sample. In addition, where appropriate, the sample’s phenotype is determined as well. The Alpha-1 Detection Laboratory is under the direction of Mark L. Brantly at the University of Florida. For more information about the Alpha-1 Detection Laboratory for the ACT Study at the University of Florida, you may call toll free at 1-866-284-2708 or click on the following link: The Alpha-1 Detection Lab
Targeted Detection Program
The Alpha-1 Foundation’s Targeted Detection Program promotes worldwide awareness and the identification of alpha-1 antitrypsin deficient individuals in population groups at high risk for Alpha-1, such as adults with chronic obstructive pulmonary disease (COPD), irreversible asthma and children and adults with unexplained liver disease. The program is dedicated to raising awareness about Alpha-1 among medical professionals, the media and the public. An important component of the Alpha-1 Foundation’s Targeted Detection Program is the State of Florida Detection Program. This state-sponsored awareness, screening and detection program for Alpha-1 is a collaboration between the State of Florida Department of Health and Human Services, the Alpha-1 Foundation and the University of Florida College of Medicine. Testing through the State of Florida Detection Program is free to Florida residents and is administered through physicians’ offices. The test results will be mailed directly back to the physician to ensure accurate interpretation. For more information about the Targeted Detection Program or if you would like to request test kits, please contact Dr. Jorge Zamudio, Director of Program Administration, at jzamudio@alphaone.org or call 1-888-825-7421 ext. 246.
The Alpha-1 Foundation DNA and Tissue Bank at the University of Florida
The Alpha-1 Foundation DNA and Tissue Bank at the University of Florida has reached a milestone – the completion of enrollment.
The bank, established in 2002, has more than 2,300 members enrolled and is available for researchers to request medical information (the names of donors are not revealed) and samples for research projects. No further enrollment is anticipated at this time, and no new samples are being accepted.
Almost all enrolled subjects have provided medical information and blood samples, said Mark Brantly, MD, principal investigator for the project. In addition, he said, pulmonary function and liver enzyme testing results are a part of the bank’s data set.
The Alpha-1 Foundation DNA and Tissue Bank is the central storage location for DNA and tissue samples both from people with Alpha-1 Antitrypsin Deficiency and from people who do not have the deficiency, but simply wished to donate their DNA or tissue.
The Bank is a resource for DNA and tissue samples that are studied by researchers investigating Alpha-1 and other diseases.
Researchers needing information on how to obtain samples of DNA and tissue should contact Randel Plant, director of research administration, Alpha-1 Foundation at rplant@alphaone.org or at 1-888-825-7421 ext 252.
Alphas, friends and families wanting more information on the Bank may call the Alpha-1 Lab at the University of Florida toll free, 1-866-284-2708.
Brantly said a manuscript on the tissue bank project is being finalized for publishing.
The Alpha-1 Foundation thanks all participants in the DNA and Tissue Bank for making it possible to provide scientists from all over the world with essential tissue for research on Alpha-1 Antitrypsin Deficiency.
Alpha-1 Foundation Clinical Resource Centers
There are 66 Clinical Resource Centers throughout North America that specialize in patient care and education for those with Alpha-1. Some centers treat lung disease and others liver disease. The centers have other resources for Alphas such as support groups, transplant centers and pulmonary rehabilitation. Please contact the center nearest you for information: Clinical Resource Centers
Alpha-1 Translational Research Laboratory
The Alpha-1 Translational Research Laboratory is devoted to characterizing the molecular mechanisms responsible for the development of liver and lung disease in alpha-1 antitrypsin deficient individuals and to the development of new treatments. The Alpha-1 Translational Research Laboratory is under the direction of Mark L. Brantly, M.D. at the University of Florida. For more information about the Alpha-1 Translational Research Laboratory, you may call toll free at 1-866-284-2708 or click on the following link: Alpha-1 Translational Research Laboratory
Bronchoscopy Research Procedure Unit and Lung Cell Biology Laboratory
The Bronchoscopy Research Procedure Unit & Lung Cell Biology Laboratory (BAL Laboratory) enables clinical studies for Alpha-1 through specialized analysis of bronchoalveolar (BAL) fluid. Because of these specialized tests, researchers can focus on the fundamental processes associated with lung injury in individuals with Alpha-1 and determine the “efficacy” of new therapies. The Bronchoscopy Research Procedure Unit and Lung Cell Biology Laboratory are under the direction of Mark L. Brantly, M.D. at the University of Florida. For more information about the Laboratory, you may call toll free at 1-866-284-2708 or click on the following link: BAL Laboratory
The Alpha-1 Gene Therapy Program
The Alpha-1 Gene Therapy Program under the direction of Mark L. Brantly, M.D. at the University of Florida. Gene Therapy is the transfer or delivery of normal or healthy genes to replace, manipulate or supplement nonfunctional or misfunctioning genes. Investigators at the Powell Gene Therapy Center at the University of Florida have developed a new alpha-1 antitrypsin (AAT) gene therapy vector, utilizing a gene vector adeno-associated virus (AAV) that appears to be effective when injected directly into the muscle. Previous studies of this vector in animals have been very encouraging, in that a single injection of the vector into the muscle appears to lead to very prolonged production of the normal AAT protein. The regulatory review process governing human trials is long and complex, but all animal studies performed to date have been reassuring with regard to the potential safety of this agent, indicating that it may be suitable for use in future trials. For further information please click on the following link: The Alpha-1 Gene Therapy Program
For more information on the programs and services of the University of Florida Alpha-1 Research Program, please contact the University of Florida College of Medicine at:
Telephone: 1-866-284-2708
Email: alpha1lab@medicine.ufl.edu
Website: www.alphaone.ufl.edu
Following is some additional information regarding ongoing and upcoming trials:
Many alpha-1 antitrypsin deficient patients participate in clinical trials involving new therapies. These trials range from the investigation of newly developed drugs to large population studies of new drugs that can support approval of these agents by the Food and Drug Administration or other authorities. Other studies investigate Alpha patients’ care involving non-drug interventions.
Trials of New Drugs
The Alpha-1 Foundation has signed consulting agreements with more than 15 companies hoping to bring new therapies forward in Alpha-1 Antitrypsin Deficiency (Alpha-1). Most of these agreements prevent us from releasing specific information about these therapies until we are given permission to do so.
At least two companies are evaluating new IV preparations of plasma-derived alpha-1 antitrypsin. We are currently waiting for the latest trials to begin. Gene therapy for human Alpha-1 is in its initial stages at the University of Florida and, if successful, should move into more extensive trials over the coming years. Several companies have promised to pursue development of inhaled forms of therapy. We are currently looking forward to the study of a new retinoid drug that might grow new air sacs in the lung. Studies of therapies to treat or prevent liver disease in Alpha-1 are in the works. Many of these seek to “trick” the liver into releasing the Alpha-1 trapped within liver cells.
Finally, several companies with marketed Alpha-1 products have begun studying the efficacy of these drugs compared to placebo. Because of the difficulty in doing such trials in the US, most of these studies will be performed in Europe.
Non-Drug Clinical Trials
Many are familiar with the lung volume reduction surgery (LVRS) studies completed under the Medicare system (the National Emphysema Treatment Trial or NETT study). This trial was designed to compare lung reduction surgery with more traditional medical management in individuals with emphysema. Many centers are actively enrolling Alpha patients in this trial. The results of this study suggested that individuals with the classic manifestations of Alpha-1 lung disease will do poorly with LVRS. The group shown to have the worst prognosis following LVRS compared with comprehensive non-surgical therapy including pulmonary rehabilitation was the one with diffuse emphysema with a low diffusing capacity especially with fairly good exercise tolerance (this describes many individuals with Alpha-1).
AlphaNet has recently completed a 24 month outcome study evaluating the benefits of its Alpha-1 Disease Management and Prevention Program (ADMAPP) and its Big Fat Reference Guide to Alpha-1 (BFRG). AlphaNet hopes to continue to follow these patients over the coming years to obtain long-term outcome data.
For More Information or to Enroll…
Don’t forget, if you have an interest in participating in any of these ongoing or upcoming trials, please be sure that the Alpha-1 Research Registry, at the Medical University of South Carolina, has you enrolled in the Program. For more information, please call 1-877-886-2383 or visit the website at www.alphaoneregistry.org
