Using Optical Genome Mapping to Identify Genetic Variants in Patients
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
This study is testing a new method called Optical Genome Mapping to see if it can find genetic changes in patients with developmental and intellectual disabilities better and faster than current genetic tests.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Bionano Genomics Industry-sponsored |
| Locations | 8 sites (Atlanta, Georgia and 7 other locations) |
| Trial ID | NCT05295277 on ClinicalTrials.gov |
What this trial studies
This observational study aims to validate Optical Genome Mapping (OGM) as a method for detecting genomic structural variants in patients with various developmental and intellectual disabilities. The study will compare the results of OGM with those obtained from standard genetic testing methods, such as chromosomal microarray analysis and next-generation sequencing. By analyzing ultra-long DNA molecules, OGM can identify a wide range of genetic alterations, including deletions and duplications, and provide results within a few days. The study involves a multi-site approach, gathering data from several institutions to assess the effectiveness of this new technology.
Who should consider this trial
Good fit: Ideal candidates include individuals with previously identified genomic aberrations from standard genetic tests or those with negative results but still suspected of having genetic conditions.
Not a fit: Patients with specific genetic variants or those who opted out of research at the testing laboratory may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a faster and more comprehensive method for identifying genetic variants that contribute to developmental and intellectual disabilities.
How similar studies have performed: Other studies have shown promising results for Optical Genome Mapping, indicating its potential effectiveness compared to standard testing methods.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Atlanta, Georgia and 7 other locations
- Praxis Genomics — Atlanta, Georgia, United States (Active_not_recruiting)
- Augusta University Research Institute — Augusta, Georgia, United States (Active_not_recruiting)
- University of Iowa Hospitals & Clinics, Molecular Pathology — Iowa City, Iowa, United States (Active_not_recruiting)
- Columbia University Irving Medical Center — New York, New York, United States (Active_not_recruiting)
- DNA Microarray CGH Laboratory, Department of Pathology, University of Rochester Medical Center — W. Henrietta, New York, United States (Active_not_recruiting)
- Greenwood Genetic Center — Greenwood, South Carolina, United States (Recruiting)
- Lineagen (A Bionano Genomics Company) — Salt Lake City, Utah, United States (Recruiting)
- Medical College of Wisconsin — Milwaukee, Wisconsin, United States (Active_not_recruiting)
Study contacts
- Principal investigator: Alka Chaubey, PhD, FACMG — Bionano Genomics
- Study coordinator: Alex Hastie, PhD
- Email: ahastie@bionanogenomics.com
- Phone: 267-315-0914
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.