View clinical trials related to Genetic Syndrome.
Filter by: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.
Objectives: The objective of study was to evaluate the safety and the efficacy of EryDex (Dexamethasone sodium phosphate encapsulated in autologous erythrocytes, using the EryDex System - EDS) at two dose levels (low dose and high dose DSP/infusion), compared to placebo, on Neurological Symptoms in Patients With Ataxia Telangiectasia. Initial Double-Blind Treatment Period (0 to 6 Months) Primary Efficacy Objective: • Evaluate the effect of EryDex at two dose levels (low dose and high dose DSP/infusion), compared to placebo, on central nervous system (CNS) symptoms measured by the change in the Modified International Cooperative Ataxia Rating Scale (mICARS) from baseline to Month 6 (Visit 9) in patients with ataxia telangiectasia (A-T). Secondary Efficacy Objectives: - Evaluate the effect of EryDex, compared to placebo, on the Clinical Global Impression of Change (CGI-C) in patients with A-T from baseline to Month 6 (Visit 9). - Evaluate the effect of EryDex, compared to placebo, on measures of Clinical Global Impression of Severity (CGI-S; structured) in patients with A-T from baseline to Month 6 (Visit 9) - Evaluate the effect of EryDex, compared to placebo, on measures of Adaptive behavior measures in patients with A-T by the Vineland Adaptive Behavior Scales (VABS) from baseline to Month 6 (Visit 9). Safety Objectives: • Evaluate the safety and tolerability of two non-overlapping doses of EryDex, compared to placebo, in patients with A-T over the 12-month double-blind study duration. Extension Treatment Period (6-12 Months): Primary Objective: • Evaluate the efficacy of EryDex at two dose levels (low dose and high dose DSP/infusion) compared to placebo, in treating CNS symptoms in A-T patients during longer-term treatment (up to 12 months), as measured by the mICARS. Secondary Objectives: - Evaluate the longer-term (up to 12 months) safety and tolerability of EryDex in A-T patients. - Compare the effects of EryDex on the CGI-C and CGI-S (structured), VABS, and QoL using the EQ-5D-5L scale.
search for a genetic cause of vascular endofibrose
Multi-centre, single arm, open label, 6 months, phase II study to evaluate the effect of Ery-Dex in improving Central Nervous System (CNS) symptoms in patients with Ataxia Teleangiectasia (AT). The study consists of a screening period (max duration of 30 days) and a treatment period (duration 6 months).