This study is intended to provide open-label, early access to voxelotor for pediatric patients with Sickle Cell Disease between the ages of 4 to 11 years old who have no alternative treatment options. Voxelotor is approved by the Food and Drug Administration in patients ages 12 and up with Sickle Cell Disease. Voxelotor has not been approved by the Food and Drug Administration for patients less than 12 years of age. Participants will follow their standard of care schedule and receive supply of medication every 3 months during study period.
Iron deficiency is the most common type of nutritional deficiency in the world and is unique in that it affects both developing and developed countries. The most common complication of iron deficiency is anemia (a low level of iron in the red blood cells). Although patients with anemia may not have any symptoms, many patients with anemia do have problems such as fatigue, tiredness, shortness of breath and/or pale skin.
Study participants will undergo some evaluations in addition to their regular anemia work up. These include the following:
2)Iron absorption test consisting of 3 blood samples over the span of 3 hours after having drank a liquid iron solution.
3) stool and urine sample collection.
4) food diary to monitor iron dietary intake.
5)If an upper endoscopy is also part of the participant's standard of care workup, the study team will ask the endoscopist to take an additional biopsy sample to test for one of the proteins that is responsible for taking up iron from your food into the intestine.
Participation in this study will last over 2 visits lasting 1 to 4 hours each. The two visits should fall within the span of 1 month of each other.
Risks associated with this study include side effects of oral iron supplement ingestion. This oral iron may have a metallic taste. In some patients, it could even cause nausea or vomit, abdominal gas or abdominal discomfort. We also ask to draw blood and blood withdrawal may have side effects including bruising, pain, bleeding or rarely infection at the puncture site. Confidentiality breach is also a risk.
There are no direct benefits to the participant. However, this study will help advance diagnosis and clinical assessments of iron deficiency anemia.
The alternative is to not participate in the study and continue regular iron deficiency anemia work up exclusively with the treating physician and medical team.
Patients with Sickle Cell Disease (SCD) report numerous barriers to the receipt of timely and appropriate care in emergency department settings. One barrier is the lack of information available to providers to quickly assess and appropriately treat pain and other issues related to SCD. This project aims to embed an Individualized Pain Plan (IPP) in the electronic health record of each patient with SCD so that relevant information is readily available and care can be delivered more accurately and in a more timely manner.
This study will evaluate if Food and Drug Administration (FDA) approved recombinant von Willebrand Factor (rVWF) is safe and effective with long term use in adult and pediatric/adolescent patients with von Willebrand Disease (VWD). Dosing is an optional prophylactic (preventative) dosing on a weekly basis, or on demand (OD) for bleeding episodes and in the management of surgical bleeding. This study may last up to 3 years. You will have clinic visits in 3 month intervals during this time.
For patients with thrombotic thrombocytopenic purpura (aTTP), research involving SHP655 added to current standard of care treatment for aTTP may be effective by reducing the severity of TTP episodes, length time on therapy and reducing clinical complications of the disease. rADAMTS-13 is an essential protein that is inactivated by antibodies. The study drug, SHP655, is given by intravenous injection (IV). It is an essential synthetic protein used to replace decreased volumes of the rADAMTS-13 protein which will prevent or lessen the symptoms of aTTP. The study will last approximately 1.5 years with the Treatment phase occurring during hospitalization for the treatment of aTTP illness and the follow-up phase that will consist of study visits occurring every week for 4 visits, then biweekly for the 2 visits with a final completion visit 1 month after the last follow-up visit lasting for a 3-month period. The length of time for each visit should last approximately 2 hours. If a recurrence or relapse of aTTP occurs during the follow-up phase, subjects will not receive additional study drug, but subjects will be followed on a bi-weekly visit schedule until remission is achieved or 4 months after the initial remission, whichever is sooner.
Sickle cell disease (SCD) is a inherited disease that can cause sudden, severe pain. The management of this pain is accomplished through analgesic medications. This study for for male and female subjects between the ages of 18 and 65 years. This study will assess the appropriate dose and the evaluate the safety of SHP 655 in SCD patients at a baseline health state which is Part A of this study. The study medication is given by infusion as a single dose. SHP 655 is believed to increase blood flow and decrease blood cells from being trapped in low blood flow areas such as joints which can lead to tissue death.
The purpose of this research project is to evaluate the effectiveness of a mobile health (mHealth) application in improving adherence to hydroxyurea therapy in patients with Sickle Cell Disease (SCD). Participants will be asked to install an application on their phone that will remind them to take their medication regularly. It notifies the participants when it is time to request a refill, it tracks their hydroxyurea use, and it gives them information on their medication. It also has resources that could be helpful for the ongoing care of their sickle cell disease. This is a 24-week project with 3 study visits. The first study visit will be at the beginning of the study period (enrollment or baseline visit), the second will be at approximately 12 weeks, and the third is at the end of the 24 weeks. At each visit, participants will complete a survey, share with us their experience with the application, and share with us where they refilled their medications. Some participants will also be asked to complete an interview at the end of their final study visit. Patient participants will receive a $25 Walmart Gift card at each of visits (including an additional $25 gift card for the optional interview) for their participation.
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.
This study is to evaluate the effectiveness of crizanlizumab-an monoclonal antibody on male patients between 16 to 65 years of age with Sickle cell disease experiencing vaso-occlusive crisis (VOC) priapism. The study will review the number of VOC-priapism events, their duration of the episodes and requirement of opioid treatment. Male patients may also take Hydroxyruea (HU) during study but must be receiving HU for at least 14 weeks before screening and continue HU during study.
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.