Clinical trials: Optical Genome Mapping
Congenital Malformations
Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).
- Trial name
- CARTOGEN-N (NCT07370792)
- Testing
- blood sample
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Céline PEBREL-RICHARD
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
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.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
MDS, ALL
Optical Genome Mapping in Hematological Malignancies
Establish the diagnostic potential of optical genome mapping in patients with suspected hematologic cancer
- Conditions
- MDS, ALL, Other Hematologic Malignant Neoplasms
- Trial name
- CARTOGEN (NCT05009537)
- Where
- 4 sites in France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Brest
Orofacial Clefts, Next Generation Sequencing (NGS)
Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors.
- Conditions
- Orofacial Clefts, Next Generation Sequencing (NGS), Optical Genome Mapping
- Trial name
- CARTOFENTE (NCT06880094)
- Testing
- blood withdrawal
- Where
- France
- Volunteers
- 26 people
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Neurodevelopmental Disorder (Diagnosis)
Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders
to evaluate the ability of the Optical genome Mapping (OGM) approach to detect simple and complex constitutional chromosomal aberrations of clinical relevance, which had previously been identified with standard diagnostic…
- Trial name
- NCT06347562
- Testing
- Optical Genome Mapping
- Where
- Italy
- Volunteers
- 58 people
- Sponsor
- IRCCS Eugenio Medea
Neurodevelopmental Disorder (Diagnosis)
Expanding NGS Data with Optical Genome Mapping (OGM)
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping.
- Trial name
- OGM (NCT06851377)
- Testing
- Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS), Trascriptome analysis
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Eugenio Medea