This is a 3-part study, with each part having a unique set of objectives for male
adolescents aged 12 to < 18 years with fragile X syndrome (FXS). Part 1 is an openlabel,
single-dose, pharmacokinetics (PK) assessment of BPN14770 25 mg and
50 mg; Part 2 is double-blind (DB) and randomized; and Part 3 is an open-label
extension (OLE) for patients who complete Part 2.
This is a multicenter, prospective cohort study. This is an observational study with no intervention. The study will consist of data collection via patient/surrogate interview and medical record review and collection of blood during the first three days of septic shock treatment . Blood samples will undergo RNA sequencing, which will be used to classify patients into sepsis phenotypes. Written informed consent from the patient or legally authorized representative (LAR) will be obtained.
Data will be collected for up to 90 days after enrollment. For patients discharged from the hospital prior to Day 28, three post-discharge assessment will be made at Day 28, Day 60, and Day 90 to ascertain vital status.
This randomized, double-blind, placebo-controlled Phase 2/3 adaptive study will first evaluate two doses of VX-147 in subjects with APOL1-mediated proteinuric kidney disease for 12 weeks to select a dose for Phase 3 and subsequently evaluate the efficacy and safety of the single, selected dose in the Phase 3 portion of the study.
The study comprises three periods: screening, treatment, and follow-up. The initial treatment period for Phase 2 is 12 weeks. Subjects enrolled for Phase 2 and Phase 3 who receive the non-selected dose will switch to the Phase 3 dose in a blinded manner after the Phase 3 dose is determined. The study will complete when 187 composite clinical outcome events are accrued among subjects in Phase 2 and Phase 3 who received placebo or the Phase 3 dose and when all enrolled subjects have at least 2 years of eGFR data.
The purpose of this study is to develop, deliver, and evaluate the KEEP IT (Keep Each Other Engaged via IT) CHW Training to increase resources and support for identifying Black women at risk for hereditary breast and ovarian cancer (HBOC). My goals are to conduct focus groups with community health workers to identify topics of interest for the initial curriculum, use a three-round Delphi process to refine and finalize an educational curriculum for CHWs focused on building trainee's digital health literacy to enhance identification and navigation of Black women at high-risk for HBOC, and to use implementation science methods to deliver and evaluate the educational training program consisting of a 1.5-day virtual workshop followed by five online modules.
Aim 1: Conduct focus groups with up to 10 community health workers to explore the topics that need to be covered as part of the KEEP IT training.
Aim 2: Use a three-round Delphi process to refine and finalize an educational curriculum for CHWs focused on building trainee's digital health literacy to enhance identification and navigation of Black women at high-risk for HBOC
Aim 3: Use implementation science methods to deliver and evaluate the educational training program consisting of a 1.5-day virtual workshop followed by five online modules
The purpose of this research study is to develop a better understanding of the cause and natural history of vascular anomalies and related syndromes. This study is being done in order to develop a better understanding of the cause of vascular anomalies in order to to improve care for people who are affected by these anomalies and related syndromes.
This study is being done at the University of Wisconsin-Madison (UW-Madison) and other sites in North America and Europe. A total of about 1000 people will participate in this study. About 20 – 30 people will take part in the study here at the Medical University of South Carolina.
The purpose of this project is to study DNA and its connection to your health. DNA is in your blood, your saliva, and other tissues in your body. DNA is the unique instructions you are born with that tells your body how to work. By looking at DNA, you can learn information about your health, certain traits, and even your ancestral roots. DNA is also called your genetic information. DNA is mostly the same from person to person. But everyone's DNA is slightly different. We are still learning how DNA impacts health. The study will look at the DNA of many different people from many different backgrounds and compare it to information in their health records. The goal is to understand how learning about DNA can help improve health care for individuals, families, and the community. Participants will provide a sample for DNA sequencing. Sequencing is the process of reading the letters of your DNA. This study may sequence your whole genome. Over time, you may be asked to provide additional samples for research purposes. The research team will collect health information about you from your medical record and may ask you questions about your health using surveys or other data collection methods
The Drug Product ZYN002 is a transdermal CBD gel. CBD is the primary non-euphoric cannabinoid contained in the Cannabis sativa L. plant. The CBD contained within ZYN002 is a pharmaceutically produced Active Pharmaceutical Ingredient (API) that is chemically identical to the CBD present in Cannabis. ZYN002 is currently being evaluated in clinical trials in children and adolescents with Fragile X Syndrome (FXS), autism spectrum disorder, 22q11.2 deletion syndrome, and developmental and epileptic encephalopathies. The present protocol for ZYN2-CL-031 (INSPIRE) is designed to evaluate the safety and tolerability of ZYN002 in the treatment of 11q11.2 Deletion Syndrome. Enrolled participants will be treated for a 1-14 week period and then further evaluated for continuation. Those eligible will be able to continue in the open-label study for an additional 24 weeks of treatment.