What is the ACT Study?

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The Alpha-1 Coded Testing (ACT) Study is a free and confidential research study based at the Medical University of South Carolina (MUSC) in Charleston. The study includes a research questionnaire and a finger-stick testing kit mailed to the individual's home. ACT provides a way for those at risk for alpha-1 antitrypsin deficiency (Alpha-1), including family members of already-diagnosed Alphas, to learn their Alpha-1 genotype. The genotype is the pair of genes an individual inherits from each parent. Knowing your genotype is significant in determining your risk for the deficiency and the risk of your children.

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Who is Eligible to Participate in the ACT Study?

The ACT Study enrolls individuals of all ages living in the United States, Canada, Puerto Rico, and all other U.S. territories.

Here are some quotes from participants who found their ACT experience beneficial and rewarding to them and their families:

Thank you for providing the research and testing that allowed me to know that I am not at risk. As two members of my family have Alpha 1, it is an enormous relief to know this is something I will not pass along to my children.

It was a good experience and valuable for our entire family!

Having two of my eight children now testing ZZ, one of whom is now getting help from you, I am grateful that they are or may be with your program and that I might be able to contribute to your research.

Thank you for this free and confidential survey, the finding that Alpha 1 runs in our family has been life changing.  Three siblings have also been tested (MZ, MZ, and SZ) and we're working on getting the other three and all the children tested as well.  We're so thankful and grateful for the work that you do and glad to know that someone is working on this relatively rare condition.
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What do I do to Receive a Testing Kit?

To order a testing kit, you must first sign an informed consent and fill out our research questionnaire. This may be done online or through the mail. Per our ACT study protocol, each participant 18 years of age and above must sign their own consent and respond to their own questionnaire. Parents/guardians must fill out consents and questionnaires for each of their minor children. Spouses must also fill out their own forms. If no Internet access is available, paper forms can be mailed, completed, and returned to MUSC.

How is my Confidentiality Protected?

Your privacy as an ACT participant is protected to the extent permitted by law. Each ACT participant is assigned a unique alpha-numeric code when they consent to be in the study. This code is saved in our secure database and written on the blood card. When you return your sample to us at MUSC, your name and date of birth are removed from the card and locked in a secure location. The “coded” blood card is sent to the Univ. of Florida Alpha-1 Antitrypsin Genetics Lab for testing. Results are then sent to MUSC, linked with your code and mailed to your home. Your personal information and ACT results are not shared with your doctor’s office or insurance company. We also do not rent or sell our address or email list to anyone.

When will the Testing Kit be Mailed?

Once the electronic or paper forms are complete, the kit is mailed to the participant’s home. Participants receive kits within 1 to 2 weeks.

When and How will I Receive my Results?

Results are mailed to your home address 3 to 4 weeks after your blood sample is returned to MUSC. Remember, you are the only one who will receive them! We do not mail results to doctors’ offices or insurance companies!

What will I Learn from my ACT Test Results?

ACT testing determines the genotype and the estimated alpha-1 antitrypsin (AAT) level. The genotype refers to the pair of genes you inherited from each parent. These two genes tell you whether you are deficient or not with Alpha-1 or if you are a carrier of Alpha-1.

For example, if your results return showing an MZ genotype, you inherited one normal copy (M) and one abnormal copy (Z) of the Alpha-1 gene.  Your MZ genotype will produce reduced amounts of AAT but should provide enough to protect you from symptoms, unless you smoke or work in an environment where extensive amounts of dust, fumes or chemicals are present. As a carrier of Alpha-1, you will pass either the M or the Z to your children. The only way to find out which gene they received from you is a blood test. Being a carrier for Alpha-1 is not a disease, as most individuals are healthy.

What if I have Questions or Don't Understand my Results?

You can call the Genetic Counseling Program at the Alpha-1 Foundation at the toll free number: 877-228-7321 ext. 326 to discuss results, to ask questions about your next steps, and to talk about Alpha-1 and its risks to your family members. The Genetic Counseling Program can discuss options for testing other family members, help you understand family genetics, and help to find an Alpha-1 specialist or support group in your area.

For more information, please see our FAQs page. If you have questions regarding the ACT Study or getting tested for Alpha-1, please call our toll free number at 877-886-2383 or email us at alphaone@musc.edu.