Diagnostic value of array-based genotyping in autoinflammatory syndromes

Diagnostic value of array-based genotyping in autoinflammatory syndromes - Array-based genotyping in autoinflammation (arrAID)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53916

Enrollment

Registered

2023-02-28

Start date

2023-01-01

Completion date

Unknown

Last updated

2024-04-09

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

Conditions

Autoinflammatory disorders Periodic fever syndromes

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: - Adult (>18 years) - Competent - Informed consent - Diagnosed with an autoinflammatory syndrome - Known genetic defect, which has been found with conventional genetic testing

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
Main study parameters/endpoints: The primary endpoint of this study is the diagnostic yield of the GSA. We defined the diagnostic yield as the percentage of patients in which the GSA is able to find a pathogenic genetic defect that fits the clinical phenotype. We will use this measurement to interpret the potential of the GSA as a potential future in vitro diagnostic test.	—

Secondary

Measure	Time frame
Secundary study parameters/endpoints: The incidental findings by GSA will be documented.	—

Countries

Netherlands

Outcome results