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Genetic Syndrome clinical trials

View clinical trials related to Genetic Syndrome.

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NCT ID: NCT03211039 Active, not recruiting - Genetic Diseases Clinical Trials

Perinatal Precision Medicine

NSIGHT2
Start date: June 29, 2017
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT02770807 Completed - Genetic Syndrome Clinical Trials

Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients

ATTeST
Start date: March 2, 2017
Phase: Phase 3
Study type: Interventional

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.

NCT ID: NCT02704260 Completed - Genetic Syndrome Clinical Trials

Genetic of SportS Induced Endofibrotic Remodeling

GOSSER
Start date: March 2, 2016
Phase: N/A
Study type: Interventional

search for a genetic cause of vascular endofibrose

NCT ID: NCT01255358 Completed - Genetic Syndrome Clinical Trials

Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Teleangiectasia Patients

IEDAT01
Start date: February 2011
Phase: Phase 2
Study type: Interventional

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).