The is a Phase 3 study for children, ages 0-17 years old, with severe von Willebrand disease (VWD). In this study, the study drug will be used prophylactically for the treatment of bleeding events. Prophylactic treatment means the study drug will be used to prevent or stop a bleed before it happens.
This study is going to look at how safe the study drug is and how well the study drug (recombinant von Willebrand factor (rVWF, vonicog alfa)), works to prevent and control bleeding.

The purpose of this study is determine the optimal dose, efficacy and safety of an investigational drug (a new drug not yet approved by the U.S. Food and Drug Administration) in adults with Nonadvanced Systemic Mastocytosis. The investigational drug is known as bezuclastinib and will be taken daily orally. Participation in the study is expected to be approximately 3 years.

The purpose of this study is to find out whether a web-based intervention using a mobile app is helpful for teens and young adults with sickle cell disease (SCD) in learning how to care for and manage their symptoms. 272 teens and adults with SCD will be enrolled in this study which is being conducted at the Medical University of South Carolina in Charleston SC., East Carolina University in Greenville NC., University of Miami in Miami FL., and the University of Alabama in Birmingham AL.

The purpose of this study is determine the optimal dose, efficacy and safety of an investigational drug (a new drug not yet approved by the U.S. Food and Drug Administration) in adults with Advanced Systemic Mastocytosis. The investigational drug is known as CGT9486 and will be taken daily orally. Participation in the study is expected to be approximately 6 years.

The purpose of this study is to compare the safety and efficacy of the PMX cartridge ( Toramyxin) (in Addition to Standard Medical Care for Patients with Endotoxemic Septic Shock:
Eligible and consented subjects will be randomized to receive either the PMX cartridge (administered twice for 1½ to 2 hours per treatment session approximately 24 hours apart) plus standard medical care or standard medical care alone. For all subjects in whom treatment has been initiated, a follow-up visit (if they are still in the hospital) or a telephone call will be completed at Day 28 (or later) to determine their mortality status. In surviving subjects, a follow-up visit or telephone call to determine their mortality status will also take place at approximately three months (i.e. Day 90) and 12 months after the subject was randomized.

Over 2400 people who have sickle cell disease and are between the ages of 15 and 45 have been enrolled into the National Registry (SCDIC-I) of patients with Sickle Cell Disease (SCD). A rich resource of natural history data, the SCDIC-I Registry has longitudinal data collected yearly since 2016 from patient surveys (e.g. self reported pain incidences, sleep, barriers to care, experiences during and after pregnancy), medical record abstraction (e.g. medications, transfusion history, co-morbidities) and laboratory results. The 150 patients (or 1200 among the 8 sites) will be selected from both MUSC adult and pediatric SCD clinics starting at 12 years of age; those not previously enrolled in the SCDIC National Registry will be offered the possibility to enroll in SCDIC-II.
We will look at the following:
1- Compare the effect of new SCD medications – crizanlizumab, voxelotor, and L-glutamine – on clinical outcomes in individuals with SCD.
2 - Identify genetic and genomic predictors of response to crizanlizumab, voxelotor, and L-glutamine
3 - Integrate study data into the CureSCi metadata catalog (MDC) to enhance future cross-study analyses.

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.

Vaso-occulsive crisis is a complication of Sickle cell disease in which the red blood cells (RBC) change shape, causing congestion within the blood vessels that leads to pain and tissue damage.

The study medication FT-4202, an oral tablet, is believed to reduce the rate of sickle cell polymerization and improve RBC membrane function, thereby reduction sickling of RBCs and their hemolysis (breakdown of red cells) that causes vascular obstruction and anemia.

This study will consist of a 52-week, randomized (volunteers are selected by chance to receive study either study medication or placebo) , placebo controlled (a placebo is a look-alike pill that contains no active medication). There will be 17 study visits.

The study is followed by a 52-week open label extension study in which all participants will receive study medication. There will be 11 study visits.

Alzheimer's disease and Epilepsy may affect over 80% of individuals that have Down syndrome by the age of 60. Biomarkers found in the blood can enhance our understanding of the earliest changes linked to disease and may enhance clinical detection and healthy aging for individuals with Down syndrome.

The purpose of this study is to discover early neurobiological processes underlying the transition from healthy aging to disease. Our research team has developed technology that allows detection of small changes in the brain that get transferred to the blood.

We are recruiting individuals that either have or do not have Down syndrome for this biomarker study. Participants should be between the ages of 6 months and 85 years old and may include mothers and siblings of a child with Down syndrome. Infants and children will require consent form a parental or legal guardian.

Each participant will provide a blood sample for research purposes. We will also gather some basic health information about senses, habits, exercise level and smoking/vaping exposures.

A device called the "Liposorber LA-15 System" has been approved by the
United States Food and Drug Administration for treating kids with focal
segmental glomerulosclerosis (FSGS). The "Liposorber LA-15 System" can only be used if other treatment options, like drugs, don't work or can't be used,
but the kidneys are still working okay. It can also be used if the subject
has had a kidney transplant and the FSGS comes back after the
transplant. Although the Liposorber System can be used for FSGS, we
are not sure how well the Liposorber System works. So, we are doing this
study to find out how well the treatment works in adults.
In this research study, there will be up to 5 adults who have FSGS
enrolled at MUSC. Subjects will come back for up to 12 treatments over 9
weeks and then 5 visits to their study doctor over the next 2 years.