This is an expanded access program, and the primary objective is to provide access to inotersen for patient with hATTR.
The purpose of this research study is to test if ARRY-371797 is safe and effective in treating dilated cardiomyopathy caused by a genetic mutation to the LMNA gene. This will be demonstrated by the functional capacity of patients in their 6-minute walk tests and quality of life questionnaires.
TARGET-HCC is a 5-year, longitudinal, observational study of the natural history and management of patients with HCC. The study will address important clinical questions that remain unanswered in the management of HCC with a unique research registry of participants with HCC from academic and community real-world practices. TARGET-HCC is disease focused, not drug specific, which allows for continuous acquisition of real-world evidence regarding the natural history, management, and outcomes of treatment with current therapies and new treatments that may be utilized in usual clinical practice.
Alpha-1 antitrypsin (Alpha-1, AAT) deficiency is an inherited disease which results from a defect in the alpha-1 gene. Severe AAT deficiency causes emphysema predominant chronic obstructive pulmonary disease (COPD). This is a first in man study of gene therapy to insert a normal Alpha-1 gene into the cells of the body and attempt to make a normal Alpha-1 antitrypsin protein. The purpose of this Phase I/II study is to test the safety of a new gene therapy called AAVrh.10h ?1AT. This gene therapy uses a viral vector called Adeno-Associated Virus to insert the normal Alpha-1 gene into the cells of the body when the vector is placed into the bloodstream or pleural space.
This research protocol will be using for initial screening and assessment potential study subjects for their farther participation in the other specific research protocols/components. These research components are part of larger research protocol - Alcohol Center Grant.
The primary objective of Enroll-HD is to develop a comprehensive repository of prospective and systematically collected clinical research data (demography, clinical features, family history, genetic characteristics) and biological specimens (blood) from individuals with manifest HD, unaffected individuals known to carry the HD mutation or at risk of carrying the HD mutation, and control research participants (e.g., spouses, siblings or offspring of HD mutation carriers known not to carry the HD mutation). Enroll-HD is conceived as a broad-based and long-term project to maximize the efficiencies of non-clinical research and participation in clinical research while ensuring privacy and protections for consenting research participants.
This study uses magnetic resonance imaging (MRI) to compare differences in brain connectivity between people with different levels of alcohol use. The study requires two visits: a clinical interview and assessment, and a 1-hour MRI scan. Subjects must be between the ages of 21 and 35. Compensation is available for eligible subjects.
Infants born early who are in the neonatal intensive care unit will be included if they meet national guidelines for retinopathy of prematurity (ROP) screening exams. Informed consent will be given to the parent(s) or legal guardians. 1.5-2 ml of blood will be drawn from a vein when the child is enrolled in the study and may be drawn again if the child requires treatment of eye disease. A cheek swab will also be obtained. These biologic samples will be shipped overnight to the University of Utah for genetic analysis. Analysis will determine if a change in gene expression causes retinopathy of prematurity. Infants enrolled in the study will be followed clinically per established ROP screening guidelines. They will not require additional study exams.
The purpose of this medical research study is to evaluate the safety and effectiveness of a new medication called imatinib mesylate in the treatment of Lymphangioleiomyomatosis (LAM). LAM is a rare disease in which abnormal cells (called LAM cells) grow out of control. Over time, LAM cells destroy healthy lung tissue and cause respiratory disease or failure.
Many patients with LAM are currently treated with a medication called sirolimus (rapamycin). Sirolimus slows the growth of LAM cells.
Imatinib mesylate (hereafter called imatinib) is approved by the Food and Drug Administration (FDA) for the treatment of some cancers that share common pathways with LAM cells. Laboratory studies suggest that imatinib could completely block the growth of LAM cells through initiation of targeted cell death.
An important purpose of this research is to determine the safety of imatinib in people with LAM. This study will also evaluate the short-term effectiveness of imatinib. Participants will be randomized to receiving imatinib (study medication) or placebo (no treatment) for the 56 day duration of participation. The study is being conducted at the Medical University of South Carolina and at Columbia Univerity in New York. Each site will enroll 10 participants.
This study is recruiting participants who are affected with Alpha-1 Antitrypsin Deficiency (Alpha-1) or are carriers of abnormal Alpha-1 Antitrypsin genes. Participants will be asked to provide a sample of blood that will be stored in a biorepository at the Medical University of South Carolina. Participants will be asked to complete surveys including demographic information and information about medical history and pulmonary disease. Survey information and samples will be linked and stored for use in future research related to Alpha-1 and genomics. Researchers with Alpha-1 related interests may request to use deidentified samples and data from the biorepository. The identity of donors is protected. Participants will not receive individual results; however, the availability of samples from people with rare genetic disease such as Alpha-1 is essential for researchers to better understand disease and risks, recommend risk reduction strategies and develop new treatments.