Glucose-6 Phosphate Dehydrogenase Deficiency
Conditions
Keywords
Glucose-6 phosphate dehydrogenase deficiency, capillary, venous, genotype phenotype correlation
Brief summary
In this study we propose to determine the correlation in glucose-6phosphate dehydrogenase enzyme activity in capillary blood obtained from a finger stick versus a venous blood specimen. As secondary endpoints we will seek to correlate phenotype as determined by quantitative and qualitative G6PD test, genotype as determined by PCR and DNA sequencing with flow cytometry. The secondary endpoints are critical for the design of G6PD diagnostic test evaluation studies.
Detailed description
In this study we propose to determine the correlation in glucose-6 phosphate dehydrogenase enzyme activity in capillary blood obtained from a finger stick versus a venous blood specimen. We will also compare results of different G6PD tests with known G6PD genetic profiles. The results of the study will inform design of future G6PD diagnostic development & evaluations. This research will be conducted in MaeSot Thailand, where G6PD deficiency has a high prevalence. Study participants will be recruited into three groups of 50 volunteers per group: 50 G6PD-deficient individuals, 50 G6PD-normal individuals, and 50 G6PD-intermediate individuals. Following a written informed consent, participants will donate about 3 ml of venous blood and about 4 drops of capillary blood (fingerstick). There will be no direct benefit to research participants.
Interventions
OTHERG6PD Test
All subjects are tested by multiple G6PD tests
Sponsors
Mahidol University
University of Oxford
PATH
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Previous G6PD test at SMRU clinic * Patient willing to participate and sign informed consent form * Patient willing to allow donated sample to be used in future research * Subjects 18 years of age or older
Exclusion criteria
* patients with severe malaria or other severe illness * Patients who received a blood transfusion in the last 3 months * Patients who received primaquine in the past 1 month (this is to ensure that previous characterization of phenotype in the healthy subject has not been influenced by a recent hemolytic reaction)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Correlation of capillary and venous blood results using Trinity quantitative G6PD test | Six months | Comparison of the performance of the Trinity quantitative test using capillary blood, vs the performance of the same test using venous blood. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Concordance between a flow cytometry-based G6PD test and the spectrophotometric gold standard | six months | Percent agreement between the quantitative results of the flow cytometry assay and the quantitative results of the spectrophotometric assay. |
| Categorical accuracy of a flow cytometry-based G6PD test against the spectrophotometric gold standard and genotyping | six months | Using a predefined cutoff to categorize values from each quantitative test, determine percent agreement within each category between the two tests. |
| Concordance between a qualitative G6PD test and the spectrophotometric gold standard | Six months | Compare sensitivity & specificity of qualitative results of the G6PD test and the categorical results of the quantitative spectrophotometric assay. |
| Categorical accuracy of qualitative G6PD test against spectrophotometric gold standard | six months | Percent agreement between the qualitative G6PD test and the categorical results of the spectrophotometric gold standard |
| Association between flow cytometry-based test and sample genotype | Six months | Determine accuracy of phenotypic results of flow cytometry assay against genetic profile. |
Countries
Thailand
Outcome results
None listed