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Clinical trial

Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders

ID
Name
934
Description
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 arms
Trial start
2022-06-15
Estimated PCD
2025-06-14
Trial end
2025-06-14
Status
Recruiting
Treatment
Optical Genome Mapping
to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.
Arms:
Optical Genome Mapping
Size
58
Primary endpoint
Diagnostic concordance rate
30 months
Eligibility criteria
Inclusion Criteria: * subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis) Exclusion Criteria: * none
Protocol
{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'primaryPurpose': 'DIAGNOSTIC', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 58, 'type': 'ESTIMATED'}}
Updated at
2024-04-04

1 organization

1 product

1 indication

Organization
IRCCS Eugenio Medea
Product
Optical Genome Mapping
Indication
Neurodevelopmental Disorder