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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E525K

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 An Open-label, Single Arm Study to Investigate the Safety, Pharmacokinetics and Pharmacodynamics of Repeat Doses of Inhaled GSK2269557 in Patients With APDS/PASLI

This is a multi-center, non-randomised, open-label, uncontrolled, single group study to investigate the safety and pharmacokinetics (PK) during 84 days repeat dosing treatment with 1000 micrograms (mcg) of inhaled GSK2269557 in addition to standard of care, in subjects with activated phosphoinositide 3-kinase (PI3K) delta syndrome /p110delta-activating mutation causing senescent T Cells, lymphadenopathy and immunodeficiency (APDS/PASLI). To date GSK2269557 has been administered to healthy subjects (smokers and non smokers), subjects with: stable Chronic Obstructive Pulmonary Disease (COPD); subjects experiencing a COPD exacerbation; and subjects with persistent, uncontrolled asthma. As this study is the first administration of GSK2269557 to subjects with APDS, this study will provide safety, tolerability, efficacy and pharmacokinetic data in this patient population. Up to 20 subjects will be enrolled into the study. The total duration of the study is approximately 30 weeks, including pre-screening/screening and follow-up.

NCT02593539
Conditions
  1. Activated PI3K-delta Syndrome
Interventions
  1. Drug: GSK2269557 DPI 500 mcg

E1021K, N334K, E525K and C416R). --- E1021K --- --- N334K --- --- E525K ---

Primary Outcomes

Description: An AE is any untoward medical occurrence in a patient or clinical investigation subject, temporally associated with the use of a medicinal product, whether or not considered related to the medicinal product.

Measure: Number of subjects with any adverse events (AE)

Time: Up to 6 months

Description: Systolic and diastolic blood pressure will be measured in semi-supine position after 5 minutes rest.

Measure: Systolic and diastolic blood pressure as a measure of safety

Time: Up to 7.5 months

Description: Temperature will be measured in semi-supine position after 5 minutes rest.

Measure: Temperature as a measure of safety

Time: Up to 7.5 months

Description: Pulse rate will be measured in semi-supine position after 5 minutes rest.

Measure: Pulse rate as a measure of safety

Time: Up to 7.5 months

Description: Respiratory rate will be measured in semi-supine position after 5 minutes rest.

Measure: Respiratory rate as a measure of safety

Time: Up to 7.5 months

Description: Single (triplicate at screening) 12-lead ECGs will be obtained at each time point during the study using an ECG machine that automatically calculates the heart rate and measures PR, QRS, QT, and QTc intervals.

Measure: 12-lead electrocardiogram (ECG) as a measure of safety

Time: Up to 7.5 months

Description: The following hematology parameters will be measured: Platelet Count, red blood cell (RBC) Count, Hemoglobin, Hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), white blood cells (WBC) count, Neutrophils, Lymphocytes, Monocytes, Eosinophils, and Basophils

Measure: Composite of hematology parameters as a measure of safety

Time: Up to 7.5 months

Description: The following clinical chemistry parameters will be measured: blood urea nitrogen (BUN)/Urea, Creatinine, Glucose, C-reactive protein (CRP), Potassium, Sodium, Calcium, aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase, Total and direct bilirubin, Total Protein, and Albumin

Measure: Composite of clinical chemistry parameters as a measure of safety

Time: Up to 7.5 months

Description: Specific gravity, power of hydrogen (pH), glucose, protein, blood and ketones measured by dipstick; and microscopic examination (if blood or protein is abnormal)

Measure: Composite of urinalysis parameters as a measure of safety

Time: Up to 7.5 months

Description: FEV1 is the maximal amount of air that can be forcefully exhaled in one second.

Measure: Spirometry: Forced expiratory volume in one second (FEV1)

Time: Up to 7.5 months

Secondary Outcomes

Measure: GSK2269557 trough plasma concentration following single and repeated treatment

Time: Pre-dose, 5 minutes, 3 hours and 24 hours post-dose on Day 1 and pre-dose on Days 2, 14, and 83 and early withdrawal


HPO Nodes