Clinical Trials About "Adenosine Kinase Deficiency Report Review" RSS

22:35 EDT 22nd March 2019 | BioPortfolio

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Showing "Adenosine Kinase Deficiency Report Review" Clinical Trials 1–25 of 5,900+

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Pyruvate Kinase Deficiency Epidemiological Study

Pyruvate kinase deficiency (PKD) is the most common red cell glycolytic enzyme defect causing hereditary non-spherocytic hemolytic anemia, caused by mutations in the PKLR gene. The main goal of this study is the diagnosis of pyruvate kinase deficiency in patients who exhibit chronic anaemia or cholelithiasis of undetermined aetiology.


Registry Study of Revcovi Treatment in Patients With ADA-SCID

The objective of this study is to develop a registry of patients with adenosine deaminase severe combined immune deficiency (ADA-SCID) treated with Revcovi™ that contains clinical and biochemical assessments for safety and dose adjustment based on adenosine deaminase (ADA) activity and erythrocyte deoxyadenosine nucleotide (dAXP) levels as well as immunologic monitoring.

AMP as a Better Delivery System of Adenosine

Adenosine and AMP are substances normally present in the body. Adenosine is also given for the treatment of some heart rhythm problems and may be used to reduce heart damage during heart attacks. The problem in using adenosine is that it is taken up by cells and, therefore, very little of the adenosine we give by vein or in the artery actually reaches the tissue. We propose to use AMP as a way to improve delivery of adenosine. AMP is inactive by itself, but is converted to ...

A RETROspective Study of Patients With TK2d

This is a medical chart review study to collect information for patients who have been taking pyrimidine nucleos(t)ides for treatment of TK2 deficiency. Information from the time of onset of symptoms will be collected to describe the pre treatment course of TK2 deficiency.

A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency

Study AG348-C-003 is a multicenter study designed to evaluate the safety and efficacy of different dose levels of AG-348 in patients with PK deficiency.

Pyruvate Kinase Deficiency Global Longitudinal Registry

This study is an observational (ie, non-interventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare non-spherocytic hemolytic anemia. This Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years. Data will be collected from participating Registry Physicians, participants, and, where appropriate, parents/guardians who...

Role of Adenosine in the Release of VEGF and Cytokines

The purpose of this study is to extend previous observations in animal models regarding the effects of adenosine in the release of cytokines to human subjects. We intend to accomplish this in two study protocols. In the first we will infuse intravenously adenosine and measure the plasma levels of inflammatory cytokines. In the second one, we will use a microdialysis technique to infuse intradermally small amounts of adenosine and will measure skin blood flow and will take a bio...

The Effect of Rosuvastatin on Adenosine Metabolism

The aim of this study is to show whether rosuvastatin influences adenosine metabolism. Therefore we will determine whether rosuvasatin increases dipyridamole-induced vasodilation by increased adenosine receptor stimulation.

A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)

Study AG348-C-007 is a multicenter study designed to evaluate the efficacy and safety of treatment with AG-348 in approximately 15-20 adult participants with pyruvate kinase deficiency (PKD), who are regularly receiving blood transfusions. The study is comprised of two parts. During the Part 1 Dose Optimization Period of the study, all participants will start on a dose of 5 mg AG-348 administered twice daily. Over the course of Part 1 each participant's dose will be optimized i...

Effect of Polymorphisms in the Adenosine a2a Receptor Gene and AMPD2 Gene on Adenosine-Induced Vasodilation and Reactive Hyperemia

The endogenous nucleoside adenosine can induce various cardiovascular and neurohumoral effects by stimulation of specific adenosine receptors. taken together these effects protect against ischaemia-reperfusion injury of (myocardial)muscles and agsinst the development of atherosclerosis. Genetic variations in genes encoding for adenosine receptors or for enzymes involved in the formation or breakdown of adenosine could potentially modulate these effects. In this study, we aim to...

A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)

This study will evaluate the efficacy and safety of orally administered AG-348 as compared with placebo in participants with pyruvate kinase deficiency (PKD), who are not regularly receiving blood transfusions. The study is comprised of two parts. During the Part 1 Dose Optimization Period of the study, all participants will start on a dose of 5 mg AG-348 administered twice daily. Over the course of Part 1 each participant's dose will be optimized individually, up to a maximum ...

Circulating Adenosine Levels Before and After IV Persantine

Persantine is a drug that is routinely used to determine blood flow to the heart in the diagnosis of coronary heart disease. Persantine causes an increase in the adenosine level in the blood. Adenosine is a naturally occuring substance in the body that can increase blood flow. Adenosine is normally removed from the bloodstream by an adenosine transporter, which is a protein that takes up adenosine from the blood into cells. The increase in adenosine levels in the blood is vari...

Use of Adenosine to Determine the Electrophysiological Mechanism of Premature Ventricular Contractions

Unblinded, controlled, non-randomized, mechanistic study to determine whether physiological mechanisms underlying PVC are sensitive to adenosine. Twenty subjects undergoing clinically-indicated, standard-of-care cardiac electrophysiology study (EPS) procedure for PVCs will receive adenosine to learn if their arrhythmias are inducible similarly to sustained ventricular tachycardia.

Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007

This is a multicenter, open-label, extension study to evaluate the long-term safety, tolerability, and efficacy of treatment with AG-348 in participants who were previously enrolled in Study AG348-C-006 or Study AG348C-007.

Dose-Response of Adenosine for Perioperative Pain

Adenosine A1 and A2 receptors are widely distributed in the brain and spinal cord and represent a non-opiate target for pain management. Activated spinal A1 receptors inhibit sensory transmission by inhibiting the slow ventral root potential, which is the C-fiber-evoked excitatory response associated with nociception. Adenosine may inhibit intrinsic neurons through an increase in K+ conductance and presynaptic inhibition of sensory nerve terminals to inhibit the release of su...

Adenosine Cardioplegia; Improved Cardioprotection?

60 elective patients for CABG will be included to receive either standard hyperkalemic cardioplegia (St.Thomas Hospital Solution No I) or cardioplegia where supranormal potassium is replaced with 1.2 mM adenosine. Hypothesis as follows: 1. Adenosine instead of supranormal potassium in the cardioplegic solution give satisfactory cardiac arrest. 2. Adenosine instead of supranormal potassium in the cardioplegic solution gives equal cardioprotection. The patients will be followed w...

Adenosine and A2A Receptors in Human Brown Adipose Tissue

This study investigates the significance of adenosine and A2A receptors in human brown adipose tissue (BAT) in vivo. Using positron emission tomography (PET), perfusion and the density of A2A receptors will be measured in supraclavicular BAT and other tissues in healthy men. The investigators hypothesize, that adenosine can activate BAT, and that adenosine A2A receptor density changes when BAT is activated by cold exposure. Understanding the mechanisms of BAT activation and th...

Phase IV, GSK2696273, Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)

Adenosine deaminase (ADA) enzyme deficiency results in severe combined immunodeficiency (SCID), a fatal autosomal recessive inherited immune disorder. Strimvelis (or GSK2696273) is a gene therapy intended for patients with ADA-SCID and for whom no suitable human leukocyte antigen (HLA) matched related stem cell donor is available. This therapy aims to restore ADA function in hematopoietic cell lineages, and in doing so prevents the pathology caused by purine metabolites (i.e., ...

Adenosine Effect on Persistent Pulmonary Vein Isolation Line Evaluation (APPLE Trial)

The investigators studied the effects of adenosine on the reconnection rate after successful pulmonary veins isolation by radiofrequency catheter ablation in patients with drug-resistant atrial fibrillation

Review of French Cases of Glutathione Synthetase Deficiency

The glutathione synthetase deficiency, inborn error of metabolism of autosomal recessive inheritance, is a rare disease (70 patients described in the world). The outcome of these patients and potential complications of this disease are not, to date, yet all known and described.

Unrelated Donor BMT for Treatment of Patients With PGK Deficiency

Phosphoglycerate kinase (PGK) deficiency is a rare x-linked disorder characterized by hemolytic anemia, seizures, muscle fatigue, and progressive neurological dysfunction. The disease is caused by the deficiency of PGK, an enzyme required for ATP formation through the glycolytic pathway. PGK is an enzyme that is ubiquitous to all cells of the human body, but red blood cells, muscles, and nerve cells are most severely affected by the absence of PGK due to their reliance upon t...

Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease

Background: Some people with the same disorder on a genetic level have more complications than others. Researchers want to look for a link between the gene PKLR and sickle cell disease (SCD) symptoms. That gene helps create a protein that red blood cells need to work normally. Differences in the gene may cause changes in the protein. That can affect how red blood cells function and can add to the effect of SCD. Researchers want to study the differences by looking at DNA....

Clonidine Versus Adenosine to Treat Neuropathic Pain

The purpose of this study is to determine the effects of clonidine and adenosine on nerve pain.

Hyperemic Efficacy of IV Adenosine in HFrEF

Little is known about the hyperemic efficacy of IV adenosine as well as safety in patients with heart failure with reduced ejection fraction (HFrEF) because they were excluded from the major FFR studies. We will evaluate the feasibility and hyperemic efficacy of IV adenosine in patients with HFrEF in comparison with IC nicorandil for invasive physiological assessment using a coronary pressure wire.

Salvage: Postconditioning With Adenosine for STEMI

Investigate the effect of selective intracoronary administration of adenosine on myocardial salvage and microvascular integrity in the setting of acute myocardial infarction.

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