RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2020-11-30
Study Completion:2024-06-30
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05295277

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 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. 2. Patients with prior negative SOC genetic testing results whose results are available to compare with results from OGM.
  1. 1. Any individual who opted-out of research at the testing laboratory.
  2. 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.

Contacts and Locations

Study Contact

Alex Hastie, PhD
CONTACT
267-315-0914
ahastie@bionanogenomics.com
Megan Martin, MS
CONTACT
801-931-6203
mmartin@bionano.com

Principal Investigator

Alka Chaubey, PhD, FACMG
PRINCIPAL_INVESTIGATOR
Bionano Genomics

Study Locations (Sites)

Praxis Genomics
Atlanta, Georgia, 30328
United States
Augusta University Research Institute
Augusta, Georgia, 30912
United States
University of Iowa Hospitals & Clinics, Molecular Pathology
Iowa City, Iowa, 52242
United States
Columbia University Irving Medical Center
New York, New York, 10032
United States
DNA Microarray CGH Laboratory, Department of Pathology, University of Rochester Medical Center
W. Henrietta, New York, 14586
United States
Greenwood Genetic Center
Greenwood, South Carolina, 29646
United States
Lineagen (A Bionano Genomics Company)
Salt Lake City, Utah, 84109
United States
Medical College of Wisconsin
Milwaukee, Wisconsin, 53226
United States

Collaborators and Investigators

Sponsor: Bionano Genomics

  • Alka Chaubey, PhD, FACMG, PRINCIPAL_INVESTIGATOR, Bionano Genomics

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2020-11-30
Study Completion Date2024-06-30

Study Record Updates

Study Start Date2020-11-30
Study Completion Date2024-06-30

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

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