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 safety and efficacy of ZYN002 in the treatment of behavioral symptoms in children and adolescents with FXS has been evaluated in three studies: Study ZYN2-CL-009, a completed open-label, multiple-center, multiple-dose study (n=20); Study ZYN2-CL-016, a completed randomized, double-blind, placebo-controlled, multiple-center study (n=212 randomized); and Study ZYN2-CL-017, an ongoing open-label extension and expanded access study to assess the long-term safety and tolerability of ZYN002 (n=240). The present protocol for ZYN2-CL-033 (RECONNECT) is designed to evaluate the efficacy and safety of ZYN002 for the treatment and behavioral symptoms in children and adolescents with genetic evidence of full mutation FXS. Qualified subjects that complete ZYN2-CL-033 will have the opportunity to roll over to the open label ZYN2-CL-017 study.
Eligible adolescents and emerging adults (ages 12-25) who have used cannabis in the past year will attend 1-2 laboratory visits. They will complete a series of interviews and self-report measures, including assessment of cannabis quantity and frequency, subjective effects of cannabis, and problems due to cannabis use. They will provide a urine sample for analysis of a THC metabolite and they will provide a blood sample for analysis of genes related to cytochrome P450 enzyme activity, which are thought to be associated with metabolism of THC.
Genetic changes to human skin contribute to a wide variety of conditions and diseases that affect over 20% of the population. However, the genes and molecules that are responsible for human skin development and disease are not fully understood, preventing the development of treatment options. This proposal seeks to better understand one disease in particular, linear morphea, a form of Sclerederma that can affect the skin, muscle, and bone. This study will recruit subjects to collect and use skin tissue for the purpose of identifying the genetic causes of linear morphea.
Systemic lupus erythematosus (SLE) also known as lupus is a complex autoimmune disorder where the immune system attacks itself instead of external pathogens that can cause disease like bacteria or viruses. The large majority of SLE patients are women. The purpose of this study is to better understand how SLE affects overall patient health in women and expression of genes linked to the development of SLE. Part of this study involves collection of a blood sample at a single visit to test expression of genes linked to SLE. This study will compare demographic and clinical characteristics and genetic differences among women with SLE from three racial/ethnic groups. Better understanding of racial/ethnic differences in health and genetic expression of SLE could help reduce poor disease outcomes such as kidney or heart disease. Results will help us learn more about differences in SLE health across different racial/ethnic backgrounds and will guide medical care.
The study is an open-label study to determine the safety and efficacy of VX-147-101 in subjects who have APOLI dependent FSGS. The study comprises three periods: screening, treatment, and follow-up. The study includes a screening visit to determine if you have the APOLI gene. Participation in this study will last approximately 17 weeks. Participants may choose to participate in an off-treatment observation for up to 12 additional weeks.
Patients with Alzheimer Disease and patients with Heart failure (and a control group free from both the previous mentioned conditions) will be evaluated with cardiac and neuropsychological assessments, in order to investigate the relationship between the two conditions. 8 follow up visits will be repeated yearly, for 8 years.
The purpose of this study is to test to see if you have a certain genetic mutation (changes in DNA) so we can learn more about kidney disease. The study involves one blood and saliva test and takes about 30 minutes. The blood test is to see if you have genetic changes in your DNA of a protein called APOL1. People who have this gene mutation may be at risk of losing their kidney function faster than others. The test won't cost you anything. In fact, if you decide to participate, you will be compensated $45. You should know that the test used to determine if you have an APOL1 genetic mutation is not FDA approved, however the FDA has approved this test for research purposes. If you were to participate in this study and take the blood test, and the result indicated you have this mutation, there may be an opportunity in the future to volunteer in an additional research study where you will receive the treatment. This treatment is designed by Vertex, especially for people with kidney disease from APOL1 mutation.
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (the levels of drug in the blood) and pharmacodynamics (the effect of the drug on your body) of the study drug, MYK-491, when administered orally twice a day for about one to two weeks.The study will recruit patients with an enlarged heart and weakened heart muscle not caused by heart damage from a heart attack or heart valve problem. Eligible patients must also have a specific genetic mutation called MHY7. All subjects that qualify will receive MYK-491 (no placebo, or inactive pill will be dispensed during the study). The study medication is designed to improve cardiac contractility or the ability of the heart to squeeze.
This study has two treatment periods during which multiple doses of MYK-491 (the study drug) will be administered. Once Treatment Period 1 is completed, participants will return to the clinical site for study assessments and to obtain a dose for Treatment Period 2. The investigator will review the results of the study assessments and participants will learn if they will receive a lower or higher dose of MYK-491 for Treatment Period 2 than they received in Treatment Period 1. The expected study duration ranges from about 4 weeks to 11 weeks, including about 1-8 weeks for screening, 9 to 15 days for IMP dosing and an approximately 1 week (7±1 days) follow-up visit.
The purpose of this research is to treat disseminated actinic porokeratosis (DSAP) with cholesterol/lovastatin or lovastatin alone. The goal of treatment is to decrease (DSAP) lesions after 12 weeks of treatment and compare which treatment is best.
The study is single-blinded and randomized, meaning the patients will not be told of which treatment they will receive, and the decision of which treatment they will receive will be completely random. The patient will also agree to close up photographs and clinical photographs taken of their disseminated actinic porokeratosis at the initial visit. At weeks 4, 8, and 12, the patients will complete a virtual visit. The subject will take a picture (phone camera/digital camera) of their lesions/skin markings with a measuring instrument. These photos will be shared with the investigators. Physical exam, photographs, and a review of of the subjects medical records will occur in the study. Changes in size, appearance, and pain will be monitored throughout the study.
The possible benefit of joining this study is that the treatment received may be more effective than the other study treatment or than other available treatments for DSAP, although this cannot be guaranteed.