View clinical trials related to Genetic Disease.
Filter by:The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.
Noninvasive prenatal genetic testing (NIPT) is an important new screening test option provided to pregnant women in the first trimester of pregnancy. The advantage of this screen is that is provides information about the risk of trisomy 13, trisomy 18, and trisomy 21 with greater accuracy than conventional screens. At the same time, NIPT can produce information about the risk of a cohort of other fetal genetic variants, including sex chromosome aneuploidies and microdeletion syndromes. While not yet clinically available for whole exome sequencing, the potential for this next clinical application already exists. The challenge is that, while this is an important new test, there are little data about how to best structure patient-centered decisions about its use, including decisions if to use this screen and how the information may directly inform subsequent prenatal care decisions. The purpose of this study is to gain formative data about current practice patterns with respect to how NIPT is discussed in the clinical visit and to use these data to help inform best practices for its continued use in the clinical setting.
OBJECTIVE To investigate neurodegeneration and demyelination in the central and peripheral nervous system in multiple sclerosis linked to disease progression and mechanisms that can explain different responses to Fampridine treatment in MS patients with walking disability. METHOD The study is a prospective cohort follow-up study with 98 participants with MS and walking disability. Participants are identified as responders or non-responders to Fampridine treatment prior to the study. Participants will undergo MRI of the cerebrum with lesion load quantification, neurophysiological tests comprised of motor evoked potentials and electroneurographic examination, blood samples examining KIR4.1 antibodies, brain derived neurotrophic factor (BDNF), myelin protein zero (MPZ), peripheral myelin protein 22 (PMP22), p75-nerve growth factor receptor (p75NGFR) and anti-myelin associated glycoprotein (anti-MAG). The presence of SORCS-3 gene mutation will also be examined, as will cerebrospinal fluid levels of myelin basic protein, neurofilament heavy and light chains. Functional test of Timed 25-foot walk test (T25FW) will identify response to Fampridine treatment. A functional test battery will further detail function of upper extremities and cognition. CONCLUSION This study will add to the understanding of neurodegeneration and demyelination in CNS and PNS in patients with MS having walking disability. This will impact clinical decision-making by improving organization of immunomodulatory treatment, identifying biomarkers thus facilitating earlier treatment and improving patient control, information and education.
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.
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.