Recruiting

Optical Genome Mapping

Sponsor:

Bionano Genomics

Code:

NCT05295277

Conditions

Developmental Disability

Intellectual Disability

Autism Spectrum Disorder

Congenital Anomaly

Fragile X Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Standard of care genetic testing group

Study Details

Brief 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

Study ID

NCT05295277

Start date

Nov 30, 2020

Status verified date

Aug, 2023

Completion date

Jun 30, 2024

Anticipated

Primary completion date

Mar 31, 2024

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

1. Individual with a genomic aberration identified by CMA, karyotyping, Southern blot analysis, PCR, FISH, and/or NGS or other standard of care (SOC) genetic testing technology whose clinical test results are available to compare with results from OGM.
2. Patients with prior negative SOC genetic testing results whose results are available to compare with results from OGM.

Exclusion Criteria:

1. Any individual who opted-out of research at the testing laboratory.
2. An individual whose genetic test contains the following variants: pathogenic sequence variants, abnormalities involving acrocentric p-arms and centromeres, below 20% for mosaicism, and tetraploidy.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

Standard of care genetic testing group

Individuals with genomic test results from a standard of care (SOC) test (such as CMA, karyotyping, Southern blot analysis, PCR, FISH, and/or NGS, etc.) will be enrolled in the study to compare the SOC result to results from optical genome mapping.

Interventions

Standard of care genetic testing group

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

Primary outcome measure

  • Sensitivity/Concordance and specificity of OGM with standard of care testing for detection of structural variants. [ Time Frame: Through study completion, an average of 1 year ]

Central Contacts and Locations

Central contacts

Alex Hastie, PhD

267-315-0914ahastie@bionanogenomics.com

Megan Martin, MS

801-931-6203mmartin@bionano.com

Locations

Greenwood Genetic Center

Recruiting

Greenwood, South Carolina, United States, 29646

Principal Investigator:

Steven A. Skinner, MD

Lineagen (A Bionano Genomics Company)

Recruiting

Salt Lake City, Utah, United States, 84109

More Information

Sponsor

Bionano Genomics

Last update posted

Aug 7, 2023

Last verified

Aug, 2023

Keywords

  • Validation study
  • Comparison study
  • New technology compared to standard of care

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Bionano Genomics on 2023-08-07.