Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

58 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-06-15

Study Completion Date

2025-06-14

Brief Summary

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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)

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Detailed Description

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Conditions

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Neurodevelopmental Disorder (Diagnosis)

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Optical Genome Mapping

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

Group Type EXPERIMENTAL

Optical Genome Mapping

Intervention Type GENETIC

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

Interventions

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Optical Genome Mapping

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

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

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