Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

IRCCS Eugenio Medea

Status: Enrolling

Conditions: Neurodevelopmental Disorder (Diagnosis)

Treatments: Genetic: Optical Genome Mapping

Study type: Interventional

Funder types: Other

Identifiers

NCT06347562

934

Details and patient eligibility

About

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)

Enrollment: 58 estimated patients

Sex: All

Ages: 2 to 17 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• none

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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58 participants in 1 patient group

Optical Genome Mapping

Experimental group

Description:

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

Treatment:

Genetic: Optical Genome Mapping