Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders
Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders
1 other identifier
interventional
58
1 country
1
Brief 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)
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for not_applicable
Started Jun 2022
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 15, 2022
CompletedFirst Submitted
Initial submission to the registry
March 21, 2024
CompletedFirst Posted
Study publicly available on registry
April 4, 2024
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 14, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
June 14, 2025
CompletedApril 4, 2024
April 1, 2024
3 years
March 21, 2024
April 2, 2024
Conditions
Outcome Measures
Primary Outcomes (1)
Diagnostic concordance rate
percentage of concordance between optical genome mapping and standard assays (Karyotyping, Chromosomal Microarray Analysis) for all aberrations with clinical significance
30 months
Study Arms (1)
Optical Genome Mapping
EXPERIMENTALexplore the ability of Optical Genome Mapping (OGM) to detect known constitutional chromosomal aberrations.
Interventions
to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.
Eligibility Criteria
You may qualify if:
- subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)
You may not qualify if:
- none
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Scientific Institute E. Medea
Bosisio Parini, Lecco, 23842, Italy
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 21, 2024
First Posted
April 4, 2024
Study Start
June 15, 2022
Primary Completion
June 14, 2025
Study Completion
June 14, 2025
Last Updated
April 4, 2024
Record last verified: 2024-04