Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

Not Applicable

Recruiting

• Conditions: Neurodevelopmental Disorder (Diagnosis)
• Interventions: Genetic: Optical Genome Mapping

• Registration Number: NCT06347562
• Lead Sponsor: IRCCS Eugenio Medea

Brief Summary

to evaluate the ability of the Optical genome Mapping (OGM) approach to detect simple and complex constitutional chromosomal aberrations of clinical relevance, which had previously been identified with standard diagnostic approaches (karyotyping, FISH, CNV-microarray) in the context of neurodevelopmental disorders (NDDs) with/wo congenital anomalies (CA)

Detailed Description

Not available

Study Timeline

• Study Start: 2022-06-15
• Study First Submitted: 2024-03-21
• Status Verified: 2024-04
• Study First Submitted QC: 2024-04-02
• Last Update Submitted: 2024-04-02
• Study First Posted: 2024-04-04
• Last Update Posted: 2024-04-04
• Primary Completion: 2025-06-14
• Study Completion: 2025-06-14

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 58

Inclusion Criteria

• subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)

Exclusion Criteria

• none

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Optical Genome Mapping	Optical Genome Mapping	explore the ability of Optical Genome Mapping (OGM) to detect known constitutional chromosomal aberrations.

Primary Outcome Measures

Name	Time	Method
Diagnostic concordance rate	30 months	percentage of concordance between optical genome mapping and standard assays (Karyotyping, Chromosomal Microarray Analysis) for all aberrations with clinical significance

Trial Locations

Locations (1)

Scientific Institute E. Medea; 🇮🇹 Bosisio Parini, Lecco, Italy