What is the MUSC Biorepository?

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The newest endeavor by the Alpha-1 Foundation is to improve the current registry by increasing the patient information that is gathered, acquiring lung function tests and biological samples from willing participants and sharing this information in a new format for both investigators and others interested. The new registry is named the Alpha-1 Clinical Resource Center (CRC) Research Registry, and is a confidential database made up of individuals diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1). Enrollment requires a participant to visit one of the Alpha-1 CRCs closest to them.

The CRC Registry will run parallel to the existing contact registry until such time as the contact registry is no longer useful to the Alpha-1 community. The purpose and goal of the Alpha-1 Foundation CRC Research Registry will be to obtain uniform, longitudinal, complete and accurate data that can be organized, de-identified (satisfying HIPAA safe harbor rules for the USA) and made available for the public to query. In addition to empowering the CRC network, regular updates from patient visits will give objective data-points to measure the progression of disease. Acquisition of biological samples will add additional research samples. The goal of more specific CRC entered data is to build a research network that can meet the challenges of multiple competing research trials that require large numbers of AATD individuals. In addition, the format of the Alpha-1 Foundation CRC Research Registry is built to be more aligned with other international Alpha-1 research organizations making data sharing for studies which require large cohorts a possibility.

Hosted at the Medical University of South Carolina (MUSC) in Charleston, the registry employs procedures that ensure the most stringent confidentiality of participants. Individuals enrolled in the Registry have the ongoing opportunity to participate directly in clinical trials of new therapeutic approaches in addition to other research opportunities.

Significant research over the past five decades has led to an advanced knowledge of the condition of Alpha-1. Advances include understanding the genetics, related emphysema and liver disease, and treatments. Increased research is necessary to find a cure for Alpha-1 deficiency, develop new therapies and to improve existing treatments. Research also helps find better means of detecting Alpha-1, can give us a better understanding of what causes emphysema and/or liver disease, and help us fully understand and improve the social and legal implications of having Alpha-1.

How do I enroll in the CRC Registry?

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What to expect at your CRC Enrollment Visit:

Enrolling in the CRC Registry requires visiting an Alpha-1 doctor at a participating CRC. The visit will include meeting with a study coordinator to go over the consent form, collection of medical information, family history and other related information for use in medical research via online questionnaires. These questionnaires will ask you about exposure to cigarette smoke, other dust and fumes, as well as your symptoms and quality of life. They should take approximately 30 minutes to complete. You will have the opportunity to donate a blood sample for a bio-repository where blood and other biological materials are stored for the purpose of sharing them with other researchers.

You can read the consent form here

How Can my Participation help Promote Research?

One of the largest obstacles in Alpha-1 research is finding a sufficient number of volunteers to participate in studies. By establishing a database of thousands of people with Alpha-1 and promoting its use to the Alpha-1 research community, the Registry will allow new therapies and important research studies to be evaluated. Through the voluntary participation of Registry members, basic scientific questions about Alpha-1 can be answered, enabling the disorder and its impact on Alphas to be more thoroughly understood.

Participation in research is voluntary and Registry members are always given the option to accept or decline research invitations. The Registry accepts different levels of commitment to research from its members. Simply filling out the enrollment questionnaire provides the Registry with valuable research material on the numbers of patients diagnosed with Alpha-1 and their clinical symptoms of disease. Your enrollment helps because the ability to contact a large number of Alphas motivates medical and scientific investigators to conduct important research in Alpha-1 otherwise thought impossible due to an insufficient number of available participants.

If you have questions please contact the Alpha-1 Research Registry for more information.
Toll Free: 1-877-886-2383
Email: alphaone@musc.edu