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Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

NCT06347562 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 58

Last updated 2024-04-04

No results posted yet for this study

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

GENETIC

Optical Genome Mapping

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

Sponsors & Collaborators

  • IRCCS Eugenio Medea

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-06-15
Primary Completion
2025-06-14
Completion
2025-06-14

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06347562 on ClinicalTrials.gov