The International Intestinal Failure Registry (IFR) is an initiative of the Intestinal Rehabilitation and Transplant Association (IRTA) and The Transplantation Society (TTS) and will be managed by these organizations. The primary objective of this project is to create a large international database of children with intestinal failure to characterize their management and outcome and guide the development of best practices and evidence-based management.
The primary objective of this project is to create a large international database of children with intestinal failure to characterize their management and outcome and guide the development of best practices and evidence-based management.
This is an experimental drug trial to study a new drug, elafibranor, in patients with Primary Biliary Cholangitis (PBC). The main objective of this study is to evaluate the effect of daily oral 80mg elafibranor for 52 weeks on the treatment of cholestasis (impairment of bile formation and/or bile buildup) in patients with PBC. Elafibranor is a medicine being developed by Genfit Pharmaceuticals that is designed to work differently than any other available medications for PBC. In addition to decreasing bile acid formation, increasing bile acid uptake, and detoxifying bile acids like medications that work similarly to elafibranor, elafibranor additionally has anti-inflammatory effects that Genfit believes will provide additional health benefits to patients with PBC.
Persons interested in participation will need to complete at least 1, but no more than 3, Screening Visits at the Main Campus of the Medical University of South Carolina (MUSC) in Charleston, SC in order to determine eligibility. If enrolled, you will have up to 21 study visits with the study doctor at MUSC over a period of at least 52 weeks (1 year) and up to a maximum of 312 weeks (6 years). At study visits you will be asked to complete up to 7 study-related questionnaires and complete any study-related testing such as physical exams, medical imaging, lab work (such as blood or urine tests), etc.
Genetic changes to human skin contribute to a wide variety of conditions and diseases that affect over 20% of the population. However, the genes and molecules that are responsible for human skin development and disease are not fully understood, preventing the development of treatment options. This proposal seeks to better understand one disease in particular, linear morphea, a form of Sclerederma that can affect the skin, muscle, and bone. This study will recruit subjects to collect and use skin tissue for the purpose of identifying the genetic causes of linear morphea.
The HEALEY ALS Platform Trial is a research trial that tests the safety and effectiveness of multiple treatment courses on Amyotrophic Lateral Sclerosis (ALS). Different courses of treatments may be ongoing at the same time and additional treatment courses may be added to the study as time goes by. Qualified participants will have a 3 in 4 chance of being randomly assigned to an active drug or a 1 in 4 chance of being randomly assigned to an inactive drug. After a treatment course is completed, participants may participate in another treatment course, or if available, continue in an optional extension period of the treatment.
The purpose of this study is to test to see if you have a certain genetic mutation (changes in DNA) so we can learn more about kidney disease. The study involves one blood and saliva test and takes about 30 minutes. The blood test is to see if you have genetic changes in your DNA of a protein called APOL1. People who have this gene mutation may be at risk of losing their kidney function faster than others. The test won't cost you anything. In fact, if you decide to participate, you will be compensated $45. You should know that the test used to determine if you have an APOL1 genetic mutation is not FDA approved, however the FDA has approved this test for research purposes. If you were to participate in this study and take the blood test, and the result indicated you have this mutation, there may be an opportunity in the future to volunteer in an additional research study where you will receive the treatment. This treatment is designed by Vertex, especially for people with kidney disease from APOL1 mutation.
The purpose of this research is to treat disseminated actinic porokeratosis (DSAP) with cholesterol/lovastatin or lovastatin alone. The goal of treatment is to decrease (DSAP) lesions after 12 weeks of treatment and compare which treatment is best.
The study is single-blinded and randomized, meaning the patients will not be told of which treatment they will receive, and the decision of which treatment they will receive will be completely random. The patient will also agree to close up photographs and clinical photographs taken of their disseminated actinic porokeratosis at the initial visit. At weeks 4, 8, and 12, the patients will complete a virtual visit. The subject will take a picture (phone camera/digital camera) of their lesions/skin markings with a measuring instrument. These photos will be shared with the investigators. Physical exam, photographs, and a review of of the subjects medical records will occur in the study. Changes in size, appearance, and pain will be monitored throughout the study.
The possible benefit of joining this study is that the treatment received may be more effective than the other study treatment or than other available treatments for DSAP, although this cannot be guaranteed.
FORWARD, the Fragile X Registry and Database, is the largest resource of clinical and demographic data of the Fragile X syndrome (FXS) population in the United States. FORWARD was created to improve the care and quality of life for those living with FXS. By collecting and monitoring changing data, researchers and healthcare professionals can better understand the experiences of individuals with FXS and their families. Information collected from families like yours will be used to develop best practice guidelines for the care of individuals with FXS around the world.
KD025 is an investigational medication undergoing testing to determine if it may be effective in the treatment of diffuse systemic sclerosis (skin thickening on more than just the hands). KD025 has previously been tested in graft-versus-host disease, idiopathic pulmonary fibrosis, and psoriasis. It has shown preliminary effectiveness and safety in the treatment of these conditions. This study will randomly assign subjects to one of three treatment groups, 20mg of KD025 twice per day, 20mg of KD025 once per day, and placebo. The study will measure the improvement, stabilization or worsening of your symptoms, such as changes in your fatigue and pain levels, lung function, skin thickness and other patient reported outcomes. The study treatment period will last 1 year. The drug may help mitigate symptoms of systemic sclerosis and thus may be helpful with the disease in study. The population to be enrolled in this study will involve patients diagnosed with systemic sclerosis, diffuse subset, 18 years of age or older.
Individuals with alpha-1 antitrypsin (AAT) deficiency, emphysema and who have been enrolled in the SPARTA trial will be invited to participate in this study. This is a two year extension of the SPARTA trial for subjects who did not receive the study drug (Alpha 1 Proteinase Inhibitor) and for those who complete the SPARTA trial. Participants will all receive weekly infusions of Alpha-1 MP 60mg/kg either at MUSC or at home with a home health nurse. All participants will have blood work, pulmonary function test and CT scans done as part of this study. Safety and side effects of all therapies will be monitored.
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 study is designed to test the effectiveness of an drug (Alvelestat) on lung damage caused by Alpha-1 Antitrypsin Deficiency. This is blinded study and there is a 50% chance of receiving a placebo.