SNPMiner Trials by Shray Alag


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Report for Mutation R19C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Efficacy and Safety of Increasing Doses of Inhaled Albuterol Administered by Metered Dose Inhalers in Children With Acute Wheezing Episodes

Metered dose inhalers with spacers are devices capable of providing higher rates of lung deposition of drugs such as beta agonists when compared to conventional nebulizers, but there is no consensus about the optimal dose when this is the device of choice and there is evidence that younger children need proportionally higher doses of albuterol (in μg/kg) when compared to older children. Other factors that may interfere with response to albuterol treatment include the genetics of the beta adrenergic receptor (ADRβ2) and infectious etiology of the wheezing attack. This study will assess the effectiveness of a dose regimen that prioritizes higher doses of albuterol, with doses in μg/kg higher for younger children. Security of this new dosing regimen will be assessed by monitoring clinical side effects and serum levels of albuterol, but the investigators will also examine the presence of 12 different respiratory viruses in these patients and evaluate the influence of ADRβ2 receptor genetics in the response to albuterol. The primary outcome measure will be the need for hospitalization. Secondary outcomes will include a change in clinical score, respiratory rate and forced expiratory volume in the first second, the need for additional treatments and length of stay in the emergency room for those not hospitalized.

NCT01323010 Asthma Children Drug: Albuterol - Experimental Drug: Albuterol - Control
MeSH: Respiratory Sounds
HPO: Crackles Rhonchi Stridor Wheezing

To genotype the ADBR2 receptor (blood samples), the gene regions encompassing the Arg16Gly, Gln27Glu, and Arg19Cys Thr164Ile polymorphisms will be amplified via PCR. --- Arg16Gly --- --- Gln27Glu --- --- Arg19Cys ---

Primary Outcomes

Description: Hospital admission was defined as the need to stay in the emergency room for more than 4 hours, due to the failure to meet the discharge criteria (PRAM score ≤ 3 and pulse oximetry, ≥ 92%)

Measure: Hospital Admission

Time: Starting at 4 hours post-treatment

Secondary Outcomes

Description: Change in FEV1 one hour post-treatment in comparison with baseline. Spirometry was performed only in subjects older than 6 years and who could perform the maneuver properly.

Measure: Forced Expiratory Volume in the First Second

Time: One hour post-treatment in comparison with baseline

Description: Change in the Pediatric Respiratory Assessment Measure (PRAM) score one hour post-treatment in comparison with baseline. The PRAM score is used to assess the severity of asthma attacks, it ranges from 0 to 15, and the higher the score, the greater the severity of the attack. We calculated the difference between the PRAM score measured one hour post treatment and the PRAM score at baseline (PRAM score 1 hour - PRAM score baseline). The larger the absolute value of the difference, the better the outcome (e.g., a difference of -4 indicates a better outcome that a difference of -2). minimum value of the difference (Albuterol - Higher Dose, experimental group): -8 maximum value of the difference (Albuterol - Higher Dose, experimental group): 0 minimum value of the difference (Albuterol - Lower Dose, control group): -8 maximum value of the difference (Albuterol - Lower Dose, control group): 0

Measure: Change in PRAM Score After One Hour

Time: One hour post-treatment

Description: Albuterol determination in the plasma was carried out at at discharge or hospital admission (up to 4 hours post treatment), dosage was accomplished by High Performance Liquid Chromatography.

Measure: Albuterol Determination in the Plasma

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment)

Description: Changes in glucose serum levels at discharge or hospital admission (up to 4 hours post treatment) in comparison with baseline.

Measure: Changes in Glucose Serum Levels

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment) in comparison with baseline.

Description: Electrocardiogram performed at baseline

Measure: Electrocardiogram at Baseline

Time: at baseline

Description: Change in respiratory rate one hour post-treatment in comparison with baseline.

Measure: Changes in Respiratory Rate After One Hour

Time: One hour post-treatment in comparison with baseline

Description: The need for additional therapies such as magnesium sulphate or intravenous albuterol were recorded

Measure: Need for Additional Therapies

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment)

Description: Change in the Pediatric Respiratory Assessment Measure (PRAM) score at discharge or hospital admission (up to 4 hours post treatment) in comparison with baseline. The PRAM score is used to assess the severity of asthma attacks, it ranges from 0 to 15, and the higher the score, the greater the severity of the attack. We calculated the difference between the PRAM score measured at discharge or admission and the PRAM score at baseline (PRAM score discharge or admission - PRAM score baseline). The larger the absolute value of the difference, the better the outcome (e.g., a difference of -4 indicates a better outcome that a difference of -2). minimum value of the difference (Albuterol - Higher Dose, experimental group): -9 maximum value of the difference (Albuterol - Higher Dose, experimental group): 0 minimum value of the difference (Albuterol - Lower Dose, control group): -9 maximum value of the difference (Albuterol - Lower Dose, control group): 1

Measure: Changes in PRAM Score at Discharge or Hospital Admission

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment) in comparison with baseline.

Description: Changes in potassium serum levels at discharge or hospital admission (up to 4 hours post treatment) in comparison with baseline.

Measure: Changes in Potassium Serum Levels

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment) in comparison with baseline.

Description: Changes in bicarbonate serum levels at discharge or hospital admission (up to 4 hours post treatment) in comparison with baseline.

Measure: Changes in Bicarbonate Serum Levels

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment) in comparison with baseline.

Description: Changes in respiratory rate at discharge or hospital admission (up to 4 hours post treatment) in comparison with baseline.

Measure: Changes in Respiratory Rate at at Discharge or Hospital Admission.

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment) in comparison with baseline.

Description: Change in pulse oximetry one hour post-treatment in comparison with baseline

Measure: Change in Pulse Oximetry One Hour Post-treatment

Time: One hour post-treatment in comparison with baseline

Description: Changes in pulse oximetry at discharge or hospital admission (up to 4 hours post treatment) in comparison with baseline.

Measure: Changes in Pulse Oximetry at Discharge or Hospital Admission.

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment) in comparison with baseline.

Description: Change in heart rate one hour post-treatment in comparison with baseline.

Measure: Changes in Heart Rate After One Hour

Time: One hour post-treatment in comparison with baseline

Description: Changes in heart rate at discharge or hospital admission (up to 4 hours post treatment) in comparison with baseline.

Measure: Changes in Heart Rate at Discharge or Hospital Admission

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment)

Description: Electrocardiogram one hour post-treatment to identify possible rhythm disturbances.

Measure: Electrocardiogram One Hour Post-treatment.

Time: One hour post-treatment

Description: Electrocardiogram at discharge or hospital admission to identify possible rhythm disturbances.

Measure: Electrocardiogram at Discharge or Hospital Admission

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment)

Description: lengths of stay in the emergency room for discharged patients

Measure: Lengths of Stay in the Emergency Room

Time: one to four hours

Description: Admission rates in patients with and without any of the following viruses detected by PCR in nasal lavage samples: Adenovirus; Bocavirus; Coronavirus; Enterovirus (Echovirus); Influenza (A H3N2, A H1N1/2009, B and C); Metapneumovirus (subtypes A and B); Parainfluenza 1, 2, 3 and 4 (subtypes A and B); Rhinovirus; Respiratory Syncytial Virus type A and Respiratory Syncytial Virus type B.

Measure: Admission Rates in Patients With and Without Any Virus Detected

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment)

Description: Admission rates in patients with and without rhinovirus detected by PCR in nasal lavage samples.

Measure: Admission Rates in Patients With and Without Rhinovirus Detect

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment)

Description: Admission rates in patients with the Arg16Gly polymorphisms of the beta-2 adrenergic receptor (Arg16Gly, Arg16Arg and Gly16Gly genotypes).

Measure: Admission Rates in Patients With the Arg16Gly Polymorphisms

Time: at discharge or admission (up to 4 hours post treatment, minimum 1 hour, maximum 4 hours post treatment)


HPO Nodes


Stridor
Genes 32
AGRN COQ2 SLC18A3 IGHMBP2 SCN4A SYT2 TSPYL1 SLC18A2 SCN4A SLC25A1 SLC5A7 FLNA SNAP25 SLC18A2 CHAT SLC25A1 MAP3K7 SERPING1 D2HGDH PLP1 PAX8 TRPV4 SCN4A TRPV4 COQ2 SLC5A7 SLC52A3 COL13A1 SLC52A3 SCARF2 VAMP1 MYO9A