PIONEER: Psychiatric and Immune phenotyping of rare genetic neurodevelopmental syndromes

• Conditions: 10027665; Neurodevelopmental disorders; 10083624; 10037173

• Registration Number: NL-OMON56785
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 18 June 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 120

Inclusion Criteria

To be eligible to participate in this study, a subject must meet all the
following criteria:
• Molecular confirmed syndrome diagnosis (confirmed pathogenic defect in DDX3X,
SETD1A, KANSL1, ANKRD11, DYRK1A, PPM1D, YY1, RAI1, or a 17p11.2 deletion)
• Age 4 years and above
• The participant and/or their carers are fluent in Dutch
• Written informed consent

For controls we have the following inclusion criteria:
• No indications for the presence of a RGNS
• Age above 10 years
• The participant and/or their carers are fluent in Dutch
• Written informed consent by participant, legal guardian, or both if
applicable.

Exclusion Criteria

There are no exclusioncriteria for the participants.

For controls we have the following exclusion criteria:
• A known diagnosis of a systemic (auto)immune disorder (e.g. any disease
affecting the immune cells, systematic lupus erythematosus and related
disorders, rheumatoid artritis, vasculitis, systemic sclerodermia)
• Use of an immunosuppressive agent (e.g. corticosteroids, azathioprin,
ciclosporin, hydroxychloroquin, methotrexate, tacrolimus, biologicals)
• Fever or clinical signs of infection at the moment of venipuncture

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>Per participant:<br /><br>1. Immunological profile (based on medical history, blood measures)<br /><br>2. Outcomes of neurocognitive and behavioral measures: outcomes of the<br /><br>different questionnaires and intelligence tests. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable. </p><br>