Diagnostic value of array-based genotyping in autoinflammatory syndromes

• Conditions: Autoinflammatory disorders; Periodic fever syndromes; 10021429; 10021460

• Registration Number: NL-OMON53916
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 9 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 21

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

None

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
<p>Secundary study parameters/endpoints: The incidental findings by GSA will be<br /><br>documented.</p><br>