Performance evaluation of type 1 diabetes genetic risk test

Clinical performance evaluation of type 1 diabetes (T1D) SNP Array (EV4489A/B)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN22295060

Enrollment

500

Registered

2025-06-12

Start date

2025-04-07

Completion date

Unknown

Last updated

2026-06-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Discrimination of Type 1 Diabetes from other non-autoimmune diabetes such as type 2 diabetes, monogenic diabetes or secondary diabetes. Nutritional, Metabolic, Endocrine

Interventions

An observational clinical performance study will be conducted to demonstrate that, under the anticipated conditions of use, the Type 1 Diabetes (T1D) SNP Array will meet the intended use and labelling

Eligibility

Sex/Gender

All

Age

1 Days to 54 Years

Inclusion criteria

Inclusion criteria: Inclusion criteria for the study were based on the clinical diagnosis of Type 1 Diabetes or Type 2 Diabetes or absence of the disease (non-diabetic). Age criteria were utilised to define early onset (18 years) for Type 1 Diabetes. A total of 500 samples will be assessed covering 100 non-diabetics, 100 early onset (18 years) T1D cases and 200 T2D cases.

Exclusion criteria

Exclusion criteria: Not applicable. Refer to inclusion criteria.

Design outcomes

Primary

Measure	Time frame
1. DNA concentration is measured using spectrophotometry at baseline (sufficient quantity 7.5ng/µl) 2. DNA purity (260/280 ratio) is measured using spectrophotometry at baseline (sufficient quality 260/280 ratio = 3.0) 3. Genotype concordance is measured using comparison between the T1D SNP Array and the Illumina GSA Beadchip GSA MD at baseline 4. Genetic Risk Score (GRS) concordance is measured using comparison between the T1D SNP Array and the Illumina GSA Beadchip GSA MD at baseline 5. Risk level classification (low, medium, high) is measured using the T1D SNP Array and compared to the Illumina GSA Beadchip GSA MD at baseline 6. Agreement with established reference method (Illumina GSA Beadchip GSA MD) of clinical samples’ genotypes, GRSs and risk level (low, medium or high). Clinical Performance Study acceptance criteria will be as follows: • Diagnostic Sensitivity = 90% • Diagnostic Specificity = 90% • Likelihood Ratios >10 or <0.1 • ROC (Receiver Operating Characteristic) Area Under the Curve = 0.75	—

Measure

Time frame

1. DNA concentration is measured using spectrophotometry at baseline (sufficient quantity 7.5ng/µl) 2. DNA purity (260/280 ratio) is measured using spectrophotometry at baseline (sufficient quality 260/280 ratio = 3.0) 3. Genotype concordance is measured using comparison between the T1D SNP Array and the Illumina GSA Beadchip GSA MD at baseline 4. Genetic Risk Score (GRS) concordance is measured using comparison between the T1D SNP Array and the Illumina GSA Beadchip GSA MD at baseline 5. Risk level classification (low, medium, high) is measured using the T1D SNP Array and compared to the Illumina GSA Beadchip GSA MD at baseline 6. Agreement with established reference method (Illumina GSA Beadchip GSA MD) of clinical samples’ genotypes, GRSs and risk level (low, medium or high). Clinical Performance Study acceptance criteria will be as follows: • Diagnostic Sensitivity = 90% • Diagnostic Specificity = 90% • Likelihood Ratios >10 or <0.1 • ROC (Receiver Operating Characteristic) Area Under the Curve = 0.75

—

Secondary

Measure	Time frame
There are no secondary outcome measures	—

Countries

England, Northern Ireland, United Kingdom

Contacts

Public ContactHelena Murray

helena.murray@randox.com+44 2894422413

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Jun 29, 2026