The Alpha-1 Foundation Therapeutic Development Network (TDN) aims to make it easier to design and carry out clinical trials that enhance the treatment of patients with Alpha-1 Antitrypsin Deficiency (AATD). To achieve this, the TDN will establish a network of clinical trial centers that have enough patients to gather a comprehensive database of clinical and genetic information. This data will be crucial in determining the criteria for including or excluding participants in the trials and in recruiting suitable subjects.
Specifically, this study will enroll participants by in person or remote consent who will allow collection of medical records to be entered into an Alpha-1 TDN database. Participants will then be invited to future clinical trials.
In this study, we will recruit cirrhotic patients who are undergoing endocscopic procedures as part of their standard of care. Their endoscopies will reveal whether they have portal hypertensive gastropathy. After the procedure, we will ask the patients to provide us with a stool sample, which we will assess for occult GI bleeding. For those patients who DO NOT have occult GI bleeding, they will be contacted every 6 months for 2 years to check whether they have developed GI bleeding.
Collection of Blood to Evaluate Epigenomics and Protein Biomarkers for the Detection of Hepatocellular Carcinoma
The purpose of this study is to create a de-identified, public use,
repository of data of Chronic Obstructive Pulmonary Disease (COPD)
patients with by Alpha-1 antitrypsin deficiency (AATD), a rare genetic
condition that can cause COPD and emphysema.
The purpose of the MUSC Pulmonary Biorepository is to collect and store samples linked to medical and other information from individuals with pulmonary disease as well as healthy controls.
In combination with the clinical data and other approved research studies (that may recruit for and/or utilize samples of the biorepository) this sample repository will provide for uniform, longitudinal, complete and accurate data that can be organized and clinically correlated at the time of sample donation, with longitudinal testing possible as part of future study. Samples will be linked to each participant's unique ID, though will be deidentified and coded for use in future research and subsequent publications with pulmonary disease and control patients.