The TRANSFORM network is focused on improving child health outcomes in SC through research on conditions of highest priority for future generations. These include conditions like asthma, autism, diabetes, obesity and early childhood outcomes. To accelerate research study recruitment activities for future projects that TRANSFORM sites may participate in, the TRANSFORM network sites will create a research recruitment registry of families interested in volunteering for research. Participants will enter their own as well as their child(ren)'s information into the electronic registry which can be used to identify people to contact for future studies.
This study will consist of hour long focus groups or interviews with parents or legal guardians of children with asthma. The goal of this research is to determine barriers and challenges that parents face regarding daily asthma medication adherence. We also seek to identify success stories of parents who have been able to achieve high levels of medication adherence in their children and what factors might have facilitated this success. We will use the results of this study for the future development of an intervention that uses individual patient medication history to assess and communicate risk to providers and families in order to improve asthma medication adherence and reduce preventable Emergency Department visits and Hospitalizations.
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.
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.
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.