NCT05295277

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

Status unknown Last updated 7 August 2023

What this trial tests

trial testing Standard of care genetic testing group in Developmental Disability in 1,000 participants. Status unknown.

Timeline

30 November 2020

Primary endpoint
31 March 2024

30 June 2024

Quick facts

Lead sponsor	Bionano Genomics
Status	Status unknown
Study type	OBSERVATIONAL
Enrollment	1,000
Start date	30 November 2020
Primary completion	31 March 2024
Estimated completion	30 June 2024
Sites	8 locations across United States

Drugs / interventions tested

• Standard of care genetic testing group

Conditions studied

• Developmental Disability — all drugs for Developmental Disability →
• Intellectual Disability — all drugs for Intellectual Disability →
• Autism Spectrum Disorder — all drugs for Autism Spectrum Disorder →
• Congenital Anomaly — all drugs for Congenital Anomaly →

Sponsor

Bionano Genomics — full company profile →

Who can join

Eligibility, any sex, with Developmental Disability or Intellectual Disability. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
   Iqbal MA, Broeckel U, Levy B, Skinner S, et al · · 2023 · cited 40× · PMID 36828597 · DOI 10.1016/j.jmoldx.2022.12.005
2. OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities.
   Raeisi Dehkordi S, Jia Z, Estabrook J, Hauenstein J, et al · · 2025 · PMID 41238396 · DOI 10.1101/gr.280536.125