This study aims to improve our understanding of Cystic Fibrosis Transmembrane Conductance Regulator(CFTR)-related metabolic syndrome(CRMS), a term used for some infants whose newborn screening results suggest they may be at risk for cystic fibrosis but who do not currently meet the criteria for a cystic fibrosis diagnosis. CFTR stands for cystic fibrosis transmembrane conductance regulator and refers to a gene that provides instructions for making a protein that helps control the movement of salt and water in and out of cells. Changes in this gene can increase a person's risk of developing cystic fibrosis or related health concerns.
The study has two goals. First, we will review existing medical records to better understand the health conditions, symptoms, and long-term health of children with CRMS and adults with cystic fibrosis diagnosed later in life who receive care at the Medical University of South Carolina pulmonary clinic. Second, we will survey parents of children with CRMS to better understand how receiving a CRMS designation affects families emotionally and in their daily lives.
The ATHNdataset Registry is the largest blood disorders real-world data set in the United States and is used to answer important clinical and scientific questions about the specific causes, prevention, treatment, and the social and economic impact of blood disorders.
The registry will involve collecting health information from the medical records, bleeding and treatment records of participants, and completion of questionnaires. This information will be part of the ATHNdataset registry which will be used to answer scientific, public health, and policy questions about better ways to treat blood disorders.
In our preclinical mouse studies we have identified immune dysfunction in mouse models of osteogenesis imperfecta, also known as brittle bone disease. We then successfully restored bone strength in these mice with our patented adoptive cell therapy treatment.
In this study we will collect small volume blood samples from patients with osteogenesis imperfecta. We will then analyze these blood samples through a variety of methods to determine if osteogenesis imperfecta patients have the same immune dysfunction as we have seen in our mice studies.
AKI is a condition where the kidneys are not able to make enough urine. Therefore, another way to remove waste from the body is needed. One way of removing waste from the body is called Continuous Kidney Replacement Therapy (CKRT). There are different types of CKRT, but all allow waste to be removed from your body because the kidneys can not do this any longer. Acute kidney injury can also cause your immune system to not work correctly and this may be one of the reasons that AKI is such a deadly condition. White blood cells, which are key parts of the immune system, are overactive in AKI and may be the reason the immune system doesn't work the way it should. The experimental device is a Selective Cytopheretic Device (SCD). It is a set of tubing and a cartridge that is connected in series to a CKRT circuit. The SCD binds and stops overactive white blood cells. The purpose of this study is to test if the SCD helps someone with AKI recover faster than without it.
The purpose of the study is to better understand the experience of loved ones whose family members were treated for violence injuries at MUSC, and what services could potentially be improved. This study will involve administering surveys to loved ones of patients who are treated for injuries due to intentional violence at MUSC. They will be recruited via flyers and information sheets. Survey questions will address perceptions of their loved ones healthcare experience, interactions with staff members, impact of the Turning the Tide Violence Intervention Program (TTVIP), what perceived needs they have, and what services have been provided. Responses of those that have loved ones who enrolled in TTVIP compared to those who did not will be compared to assess for differences.
This study is for adult patients that have been diagnosed with stage I non-small cell lung cancer (NSCLC). The purpose of this study is to evaluate whether a drug called cemiplimab, used in combination with other standard therapies (chemotherapy) is safe and effective in treating early stage NSCLC. Cemiplimab is a FDA approved drug, but its use in this study is investigational. Participants will undergo standard procedures such as blood collection for laboratory testing, physical exams, and imaging. In addition to standard of care treatment, blood will be collected for research purposes and cemiplimab will be administered. Risks of being in this study include side effects from the drugs (such as nausea, vomiting, and low blood counts), loss of confidentiality, and bruising and/or bleeding from blood draws. Participation in this study is expected to last approximately five (5) years.
This study will look at whether a topical medication called minocycline foam (AMZEEQ) can help treat confluent and reticulated papillomatosis (CARP), a skin condition that causes dark, scaly patches. We will also evaluate how safe the treatment is and how satisfied patients are with it. The study is open to participants ages 9 years and older.
Participants will apply minocycline foam to one side of the affected skin and a moisturizing cream (emollient) to the other side for 5 weeks. This allows us to compare the two treatments in the same person. After this period, participants may choose to continue using the minocycline foam on all affected areas.
During the study, participants will attend follow-up visits where photos of the skin will be taken and the condition of the skin will be evaluated. Participants will also complete brief surveys about how their skin condition affects their quality of life and how satisfied they are with the treatment. The research team will monitor treatment use and any side effects.
The goal of this study is to learn whether topical minocycline could be a safe and effective treatment option for CARP, potentially providing an alternative to oral antibiotics.
As a part of their 2nd year curriculum, OT students offer a virtual wellness program, for graduate students, aged 18+, who are parenting, and it is called Mom Era, Reclaimed. It is led by the students and facilitated by faculty. The program runs for 6 weeks and is designed to help student moms manage stress, feel more connected to themselves and others, and build daily routines that work better for their lives as both students and parents. This study seeks to learn whether this kind of program is helpful for student moms, so it can be improved and possibly offered to more students in the future.
Participating students will be surveyed at the beginning of the first session and then again at the end of the final session to measure change in their perceptions of their stress, wellbeing and occupational balance. Student moms do not have to participate in the survey to be a part of the the wellness group, the survey is optional and will not affect their participation in the larger group.
Epidermolysis Bullosa is a genetic disorder manifesting typically at birth comprising several genetic subtypes that manifest as blistering or erosion of the skin in response to little or no apparent trauma. This clinical study is being conducted for research purposes. The cream being studied has allantoin as the active ingredient and the aim of this study is to assess the long-term safety of this cream when applied to the skin of participants with Epidermolysis Bullosa. This study is an open label extension to study SD-007. The study will be conducted by the study doctor, in other words, the physician responsible for the clinical study at your child's study site. Your child's participation in the clinical study is expected to last for approximately 12 months and approximately eighty (80) children will participate in this study. There will be a total of five (5) study visits over the course of one year. Study visits 1, 3 and 5 will be in person and visits 2 and 4 will be telephone visits.
The purpose of this study is to determine if a drug called adalimumab can reduce or prevent emergence or progression of synuclein-related neurodegeneration, or nerve cell death, in people diagnosed with REM Sleep Behavior Disorder (RBD.) About 108 individuals, aged 50-80, will be enrolled in this study, half of whom will receive the active study drug and half of whom will receive placebo. Participants would receive 40 mg adalimumab, administered subcutaneously every 2 weeks or matching placebo for up to 2 years (96 weeks).