The purpose of this study is to see if taking depemokimab is safe and effective in treating Hypereosinophilic syndrome (HES) in adults (≥18 years) with uncontrolled HES receiving standard of care (SoC) therapy. The study will last approximately 52 weeks and is a placebo-controlled, double blind, multicentre study.
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.
This study is testing an IV infusion medication to treat painful pain episodes, called vaso-occulsive crises, in participants with Sickle Cell Disease. Participants will have a screening visit followed by a 24-hour inpatient hospitalization visit to receive the IV medication and then 8 follow up visits. The purpose of this study is to learn more about how a new potential drug for treating SCD symptoms affects the body and how the body processes it.
This study is designed to evaluate a new therapy formulation for Alpha-1 Antitrypsin Deficiency (AATD). AATD is an inherited condition in which a person has low blood levels of a protein known as alpha-1 protease inhibitor (called Alpha1-PI). AATD causes an increased risk of chronic obstructive pulmonary disease (COPD) in the form of emphysema (long term lung disease) and, less frequently, other diseases.
This study is being conducted to evaluate the safety and tolerability of 2 different doses of Alpha-1 drugs (Alpha-1 15% and Liquid Alpha1-PI) in participants with AATD. Participants will be placed into one of two groups. Each group will receive both drugs at different points in the treatment period and because this is an "open label", study participants and the study staff know which dose of study drug participants receive. The study will last up to 252 days (8.5 months), and will include up to 49 visits. Many visits are able to be conducted through home health care, lessening the need to come into the clinic.
Alpha-1 15% is an investigational product, meaning it is not approved by the U.S. Food and Drug Administration (FDA). The other drug in this study is Liquid Alpha1-PI (licensed as Prolastin®-C Liquid) and is an FDA approved treatment for adults with emphysema due to AATD. However, it is only approved for the recommended dose of 60 mg/kg. This study includes both the FDA approved 60mg/kg of Liquid Alpha1-PI and an experimental dose of 120 mg/kg that is not FDA approved. Alpha-1 15% is given as an injection under the skin and Liquid Alpha1-PI is given as an infusion into the veins.
You may or may not directly benefit from participation. However, you may help advance scientific knowledge in the treatment of AATD. Currently, the only FDA approved treatment for AATD is IV infusions of Liquid Alpha1-PI. Since the drug being studied, Alpha-1 15%, is injected with a small needle under your skin, there may be a benefit to future patients by providing flexibility of treatment route options as well as stability in serum alpha1-antitrypsin levels.
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 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.
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.