SNPMiner Trials (Home Page)
Report for Mutation S9G
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 A Study on the Efficacy, Pharmacokinetics and Adverse Effects of Paliperidone ER
Background Paliperidone is an active metabolite of risperidone, both of which are antipsychotic agents for treatment of schizophrenia and related psychotic disorders. Pharmacogenetic studies have revealed that the efficacy and side effects of antipsychotic agents are related to polymorphisms of specific genes, however, there are just a few related studies on paliperidone. The current study aims to evaluate whether pharmacogenetic markers related to risperidone and genetic markers associated with schizophrenia have effects on the clinical effectiveness of paliperidone treatment. The study also uses changes of event-related potentials (ERP) as indices for clinical efficacy. Methods It is a prospective, open-label, non-randomized and uncontrolled clinical trial to study the efficacy and side effects of 6-week paliperidone ER treatment for patients with schizophrenia or schizoaffective disorder. The first three weeks of treatment has to be inpatient treatment. In the first two weeks, participants will take 9 mg paliperidone ER daily. Then the dose of paliperidone can be adjusted to within the range of 6-12 mg per day. Efficacy indicators include symptom severity, global functioning, and ERP. Side effect indicators include common side effect evaluate, extrapyramidal symptoms, metabolic profiles, hormonal change, and bone metabolism indices. Participants will also receive examinations for blood drug concentration, genetic polymorphisms, and epigenetic markers.
NCT02433717 Schizophrenia Schizoaffective Disorder Drug: Paliperidone ER MeSH:Schizophrenia Psychotic Disorders
HPO:Psychosis Schizophrenia
Whether Ser9Gly of the DRD3 gene is associated with the clinical response rate on day 42.. Pharmacogenetic factor on response rate: DRD2. --- Ser9Gly ---
Blood sampling on day 0 (40 ml), day 14 (15 ml) and day 42 (40 ml): 1. Blood paliperidone concentration and pharmacodynamics of risperidone and paliperidone on day 0, day 14, and day 42. 2. Blood biochemistry study (AC sugar, uric acid, cholesterol, triglyceride, HDL-cholesterol, leptin, adiponectin, prolactin) on day 0, day 14, and day 42. 3. Bone turnover markers (serum alkaline phosphatase, calcium, phosphate bone-specific alkaline phosphatase, intact osteocalcin), and hormonal markers (oestradiol, progesterone, LH, FSH and testosterone) on day 0 and day 42. 4. DNA sample for genetic markers on day 0: 1236C/T of the ABCB1 gene, Ser9Gly of the DRD3 gene, Ser311Cys of the DRD2 gene, 267T/C of the 5HTR6 gene, 102T/C of the 5HTR2A gene, 995G/A of the 5HTR2C gene, dinucleotide repeat (GT)n of the BDNF gene, val108/158Met of the COMT gene, and polymorphisms of the RGS4 gene. 5. Epigenetic markers on day 0 and day 42. --- Ser9Gly ---
Primary Outcomes
Description: Whether the concentration of blood paliperidone is related to the clinical response rate on day 42. Clinical response is defined as achieving 50% or more improvement in terms of PANSS total score: [(PANSS at evaluation - PANSS at baseline)/ (PANSS at baseline - 30)]*100% ≥ 50%
Measure: Pharmacodynamics factor on response rate Time: day 42Description: Whether 1236C/T of the ABCB1 gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: ABCB1 Time: day 42Description: Whether Ser9Gly of the DRD3 gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: DRD3 Time: day 42Description: Whether Ser311Cys of the DRD2 gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: DRD2 Time: day 42Description: Whether 267T/C of the 5HTR6 gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: 5HTR6 Time: day 42Description: Whether 102T/C of the 5HTR2A gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: 5HTR2A Time: day 42Description: Whether 995G/A of the 5HTR2C gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: 5HTR2C Time: day 42Description: Whether dinucleotide repeat (GT)n of the BDNF gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: BDNF Time: day 42Description: Whether val108/158Met of the COMT gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: COMT Time: day 42Description: Whether polymorphisms of RGS4 gene is associated with the clinical response rate on day 42.
Measure: Pharmacogenetic factor on response rate: RGS4 Time: day 42Secondary Outcomes
Description: Measured by Personal and Social Performance Scale (PSP)
Measure: Change in person and social function Time: day 4, day 7, day14, day 28, and day 42Description: Measured by Clinical Global Impression-Severity (CGI-S) 2. Side effect variables: DIEPSS, UKU side effect scales, body weight, blood chemistry markers, metabolic markers, hormonal markers, and bone turnover markers
Measure: Change in global impression of the patient Time: day 4, day 7, day14, day 28, and day 42Description: Mismatch negativity is an event-related potential measurement
Measure: Change in mismatch negativity Time: day 42Description: P50 is an event-related potential measurement
Measure: Change in P50 Time: day 42Description: Auditory steady state response is an event-related potential measurement
Measure: Change in auditory steady state response Time: day 42Description: CPT is a neurocognitive test
Measure: Change in attention as measured by Continuous Performance Test (CPT) Time: day 42Description: WCST is a neurocognitive test
Measure: Change in executive function as measured by Wisconsin Card Sorting Test (WCST) Time: day 42Description: Trail-A test is a neurocognitive test
Measure: Change in performance on Trail-A test Time: day 42Description: Trail-B test is a neurocognitive test
Measure: Change in performance on Trail-B test Time: day 42Description: Verbal fluency test is a neurocognitive test
Measure: Change in performance on verbal fluency test Time: day 42Description: Digit Span is a subtest of Wechsler Adult Intelligence Test-III
Measure: Change in performance on Digit Span Time: day 42Description: Arithmetic is a subtest of Wechsler Adult Intelligence Test-III
Measure: Change in performance on Arithmetic Time: day 42Description: Clinical response are defined as 50% or more improvement in terms of PANSS total score: [(PANSS at evaluation - PANSS at baseline)/ (PANSS at baseline - 30)]*100% ≥ 50%
Measure: Pharmacodynamics and pharmacogenetics factors on response rate Time: day 4, day 7, day14, day 28Description: Severity of extrapyramidal symptoms is measured by Drug-Induced Extrapyramidal Symptom Scale (DIEPSS)
Measure: Severity of extrapyramidal symptoms Time: day 4, day 7, day14, day 28, day 42Description: Severity of side effects is measured by Udvalg for Kliniske Undersogelser (UKU) Side Effect Rating Scale
Measure: Severity of side effects Time: day 4, day 7, day14, day 28, day 42Description: AC sugar
Measure: Effects on blood glucose level Time: day 14 and day 42Measure: Effects on blood cholesterol level Time: day 14 and day 42
Measure: Effects on blood triglyceride level Time: day 14 and day 42
Measure: Effects on blood HDL-cholesterol level Time: day 14 and day 42
Measure: Effects on blood prolactin level Time: day 14 and day 42
Measure: Effects on blood leptin level Time: day 14 and day 42
Measure: Effects on adiponectin level Time: day 14 and day 42
Measure: Effects on blood alkaline phosphatase level Time: day 42
Measure: Effects on blood calcium level Time: day 42
Measure: Effects on blood phosphate level Time: day 42
Measure: Effects on blood bone-specific alkaline phosphatase level Time: day 42
Measure: Effects on blood intact osteocalcin level Time: day 42
Measure: Effects on blood oestradiol level Time: day 42
Measure: Effects on blood progesterone level Time: day 42
Measure: Effects on blood LH level Time: day 42
Measure: Effects on blood FSH level Time: day 42
Measure: Effects on blood testosterone level Time: day 42
Measure: Effects on blood uric acid level Time: day 14 and day 42