This research study aims to better understand patient experiences with accessing genetic counseling services for hypermobile Ehlers-Danlos syndrome (hEDS). The study will include a review of MUSC medical records to better understand referral patterns to genetic counseling services among patients with hEDS. Patients with hEDS will also be asked to complete a survey about their experiences with accessing genetic counseling services. Healthcare providers will be asked to complete a separate survey about their experiences referring patients with hEDS to genetic counseling services and potential factors that may influence the referral process. The surveys will take approximately 10-15 minutes to complete.

There are minimal risks to participants but may include possible loss of confidentiality or discomfort when answering questions related to healthcare experiences. There is no direct benefit to participants, but the information provided may help improve access to genetic counseling services for future patients with hEDS. Participation in the surveys is completely voluntary.

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.

The purpose of this study is to determine if the investigational (not FDA approved) drug VIB4920 can be an effective treatment for patients with active Lupus Nephritis (LN).

This study will compare treatment with MMF (mycophenolate mofetil), Prednisone, plus the study medication VIB4920 to treatment with MMF and Prednisone alone.

Participants will have up to 15 scheduled visits that will involve routine monitoring of disease activity, up to two kidney biopsies, and blood and urine specimen collections. Participation in this study will last approximately 1 year and 2 months. Compensation is available for participation.

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.

Subjects in the first group will be enrolled in the GM-CSF for Reversal of Immunoparalysis in Pediatric Sepsis-induced MODS (GRACE-2) trial, comparing GM-CSF versus placebo. Subjects in the second group will be an observational cohort with no intervention, because this group has very low mortality and morbidity. Subjects in the third group will be enrolled in the Targeted Reversal of Inflammation in Pediatric Sepsis-induced MODS (TRIPS) trial, comparing anakinra and placebo. The fourth group, with very severe inflammation,
will be an observational cohort because clinical management of the inflammation
is standard of care, and there is no equipoise about enrolling these children in a placebo controlled trial. The primary outcome of both trials will be duration and severity of organ dysfunction using the cumulative PELOD-2 score, and secondary outcomes will assess health related quality of life and family functioning at 3 and 12 months.

Blood obtained from volunteers will be used as a source of neutrophils and natural killer (NK) cells necessary for an ADCC assay. Cytotox-96 kit from Promega Corporation (Madison, WI) will be used for this assay. This assay involves target cells (e.g cells from the breast cancer cell line SKBR-3), IgG antibodies directed against antigens on the cells, and effector cells (NK cells or neutrophils) from blood donors.