Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

IRCCS Eugenio Medea58 enrolled

Overview

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)

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

Conditions

Neurodevelopmental Disorder (Diagnosis)

Interventions

Optical Genome MappingGENETIC

to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.

Eligibility

Sex: ALLMin age: 2 YearsMax age: 17 Years

Medical Language ↔ Plain English

Inclusion Criteria: * subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis) Exclusion Criteria: * none

Locations (1)

Scientific Institute E. Medea

Bosisio Parini, Lecco, Italy

RECRUITING

Outcomes

Primary Outcomes

Diagnostic concordance rate

percentage of concordance between optical genome mapping and standard assays (Karyotyping, Chromosomal Microarray Analysis) for all aberrations with clinical significance

Time frame: 30 months

Data from ClinicalTrials.gov

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