View clinical trials related to Genetic Diseases, Inborn.
Filter by:The VetSeq Study is a pilot intervention study exploring the feasibility of integrating genome sequencing into clinical care at the VA Boston Healthcare System.
This is an interventional comparative study at the Department of Reproductive Medicine at Ghent University Hospital. Patients with previous embryo developmental problems are eligible for the study. Patients will undergo an ICSI-AOA treatment and will also be screened for genes important in the oocyte activation and embryonic development process. Also, the calcium releasing pattern of the patients' spermatozoa will be investigated.
The Transition Navigator Trial (TNT) is a pragmatic randomized controlled trial evaluating the effectiveness of usual care plus a patient navigator service versus usual care plus newsletters and other educational materials, to improve transition outcomes among adolescents aged 16-21 who have chronic health conditions requiring transfer to adult specialty care. The study will provide urgently needed data to guide health care providers and policy makers regarding the provision of coordinated transition care. These results have the potential to: 1. Change care delivery 2. Improve health outcomes 3. Improve the experiences of young adult transition to adult care
In this study, Investigators will conduct a prospective cohort study of dialysis patients by collecting research-quality information on patient characteristics, comorbid diseases and laboratory markers used in routine practice, as well as novel biochemical markers and genetic data. Investigators will utilize data from the cohort to test the independent relationship between biochemical and genetic markers and Fabry disease and other rare diseases.
Phase 1 Multiple Ascending Dose Study in Normal Healthy Volunteers
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene. Eligible subjects will receive rifampin for a total of 16 weeks during this study.
Phase 1 Single Ascending Dose Study in Normal Healthy Volunteers
The purpose of the study are: 1. To make quality, characterized samples and related data available for future studies, including Genome Wide Association Studies (GWAS), genomics, and biomarker research; 2. To use these samples and related medical information to answer research questions aimed at understanding the genetics and underlying biology of acquired disease and injury to the brain, heart and blood vessels with the express purpose of advancing the search for effective modalities for prevention, treatment, and recovery; 3. To develop additional operational infrastructure to support this project across the Prince of Wales Hospital and divisions, including (1) tracking of patient consent, (2) management of collection and sample processing processes, (3) sample inventory and QC/QA processes, and (4) release of materials to investigators for further research.
This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, randomized, blinded study to either rapid Whole Genome Sequencing (WGS) or rapid Whole Exome Sequencing (WES, which is 2% of the genome and ~4-fold less expensive). 213 infants were actually enrolled. Outcomes will be measured both by objective clinical measures and family perceptions (patient/family centered outcomes). Primary analysis of WGS or WES will be in infants alone. Secondary analysis, in infants who do not receive a diagnosis, will be of families - ideally trios (mother, father, and affected infant), which is ~2-fold more expensive. Trios will be analyzed within the same randomization arm (WGS or WES). This study is designed to quantify which acutely ill infants benefit from rapid genomic sequencing, by how much they benefit, how they benefit, which rapid genomic sequencing method is superior, and the cost effectiveness of such testing.
This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.