NCT06347562

Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 58 (estimated)
• Sponsor: IRCCS Eugenio Medea · Academic / Other
• Sex: All
• Age: 2 Years – 17 Years
• Healthy volunteers: Not accepted

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)

Conditions

• Neurodevelopmental Disorder (Diagnosis)

Interventions

Type	Name	Description
GENETIC	Optical Genome Mapping	to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.

Timeline

• Start date: 2022-06-15
• Primary completion: 2025-06-14
• Completion: 2025-06-14
• First posted: 2024-04-04
• Last updated: 2024-04-04

Locations

1 site across 1 country: Italy