Dear Alpha-1 Research Registry Members, We would like to inform


Dear Alpha-1 Research Registry Members,

We would like to inform you of an ongoing study sponsored by Alpha-1 Foundation to understand the natural history of liver disease in individuals with PiZZ alpha-1 antitrypsin deficiency, identify biomarkers for the progression, and construct a database linking participants data with their genetic samples. The study will consist of an enrollment visit, and four annual follow-up visits for a total of 5 visits over 5 years. Participation will involve 2 liver biopsy’s, one performed at enrollment and one performed in year 5. The goal of this study is to determine what causes liver disease in some patients and how liver disease progresses.

Eligible participants must:

1) Be at least 18 years of age.

2) Have a diagnosis of Alpha-1 with documented PiZZ phenotype or genotype. This includes individuals on or off augmentation therapy.

3) Be free of severe liver disease.

4) Be willing to be followed for 5 years.

Many exclusions to participation exist, including evidence of advanced liver disease, advanced lung disease with an FEV1 < 40% predicted, previous transplantation, and evidence of chronic hepatitis B, hepatitis C, or HIV.

The study will enroll approximately 100 subjects in the United States and will be conducted at multiple centers in the US. The University of Saint Louis and The University of California, San Diego are currently enrolling participants. Subjects living greater than 50 miles from the sites will be reimbursed at IRS rates for their travel up to a max of $200 per visit. As mentioned above, subjects will be in this study for five full years, will undergo

2 liver biopsy’s as well as FibroScan testing, and the collection of serum, plasma and blood for routine laboratory and genetic testing. Participants will receive copies of their routine laboratory test results and liver biospy pathology reports to share with their primary physician. Biological family members who are also PiZZ and older than 18 years of age will be offered enrollment into the study in order to determine if the natural history of liver disease is consistent in a given family.

For further information on the St. Louis site, please contact Jackie Cerkoski RN, BSN at 314-977-5239 or [email protected]

. To speak with a coordinator at the San Diego site please contact Phirum Nguyen at

619-471-0774. You may also find additional study information at

; search for study number “NCT02014415”. You can also call the Registry staff toll free at 1-877-866-2383 or email us at [email protected]

. Whether you decide to participate in this study is completely voluntary and your decision will not affect your participation in the Alpha-1 Research Registry in any way. Thank you for considering participation in this important study.


Charlie Strange, MD

Director, Alpha-1 Foundation Research Registry