Using Optical Genome Mapping to Identify Genetic Variants in Patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Greenwood Genetic Center
  Greenwood, South Carolina, United States Recruiting
• Lineagen (A Bionano Genomics Company)
  Salt Lake City, Utah, United States Recruiting
• 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

Study contacts

• Principal investigator: Alka Chaubey, PhD, FACMG — Bionano Genomics
• Study coordinator: Alex Hastie, PhD
• Email: ahastie@bionanogenomics.com
• Phone: 267-315-0914

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.