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Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort

NCT05295277 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2023-08-07

No results posted yet for this study

Summary

The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system. SVs are a type of genetic alternation that includes deletions, duplications, and both balanced and unbalanced rearrangements (ex: inversions or translocations), as well as specific repeat expansions and contractions. The results of OGM analysis will be compared to prior clinical genetic test results to determine how OGM compares to current standard of care (SOC) clinical test methods such as chromosomal microarray analysis (CMA), karyotyping, Southern blot analysis, polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and/or next generation sequencing (NGS), etc.

Conditions

  • Developmental Disability
  • Intellectual Disability
  • Autism Spectrum Disorder
  • Congenital Anomaly
  • Fragile X Syndrome
  • Facioscapulohumeral Muscular Dystrophy 1

Interventions

OTHER

Standard of care genetic testing group

N/A - no intervention as this is an observational study.

Sponsors & Collaborators

  • University of Rochester

    collaborator OTHER

  • Columbia University

    collaborator OTHER

  • Greenwood Genetic Center

    collaborator OTHER

  • Praxis Genomics

    collaborator UNKNOWN

  • Augusta University

    collaborator OTHER

  • Medical College of Wisconsin

    collaborator OTHER

  • University of Iowa

    collaborator OTHER

  • Bionano Genomics

    lead INDUSTRY

Principal Investigators

  • Alka Chaubey, PhD, FACMG · Bionano Genomics

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-11-30
Primary Completion
2024-03-31
Completion
2024-06-30

Countries

  • United States

Study Locations

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Diseases
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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 NCT05295277 on ClinicalTrials.gov