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

> **NCT05295277** · — · UNKNOWN · sponsor: **Bionano Genomics** · enrollment: 1000 (estimated)

## Conditions studied

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

## Interventions

- **OTHER:** Standard of care genetic testing group

## Key facts

- **NCT ID:** NCT05295277
- **Lead sponsor:** Bionano Genomics
- **Sponsor class:** INDUSTRY
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** UNKNOWN
- **Start date:** 2020-11-30
- **Primary completion:** 2024-03-31
- **Final completion:** 2024-06-30
- **Target enrollment:** 1000 (ESTIMATED)
- **Last updated:** 2023-08-07

## Collaborators

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## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT05295277

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT05295277, "Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort". Retrieved via AI Analytics 2026-06-24 from https://api.ai-analytics.org/clinical/NCT05295277. Licensed CC0.

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