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
Myelodysplastic Syndromes
Unified platforM for a Better integRal Evaluation of MyeLodyspLastic Syndromes in SpAin-Strategy for Unraveling Personalized genoMic Medicine in Public heAlth System (UMBRELLA-SUMMA)
Myelodysplastic Syndromes (MDS) are heterogeneous clonal diseases characterized by difficult diagnosis, complex prognostic stratification and unsatisfactory treatment.
- Trial name
- UMBRELLA-SUMMA (NCT06379945)
- Where
- 4 sites in Spain
- Volunteers
- 300 people
- Sponsor
- Instituto de Investigación Biomédica de Salamanca
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
Multiple Myeloma
Optical Genome Mapping in Characterization of Multiple Myeloma
The current cytogenetic characterization of Multiple Myeloma (including chromosome and gene abnormalities identification in abnormal plasma cells) encounters some limitations.
- Trial name
- MYELOPTIC (NCT05786105)
- Testing
- Bone Marrow samples collection
- Where
- France
- Volunteers
- 8 people
- Sponsor
- Institut de cancérologie Strasbourg Europe
Myeloproliferative Neoplasm, Optical Genome Mapping
Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities
Standard cytogenetics (CBA +/- FISH) is of diagnostic and prognostic interest in Ph- MPN. However, its value is limited by the low frequency of detected abnormalities.
- Conditions
- Myeloproliferative Neoplasm, Optical Genome Mapping, Cytogenetics, Clonality
- Trial name
- MYELOCARTOCH (NCT05714592)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 300 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
Acute Myeloblastic Leukemia
Impact of Optical Genome Mapping in Acute Myeloblastic Leukemia
A retrospective study using a new technology will be performed: the Optical Genome Mapping (OGM) on acute myelogenous leukemia (AML) samples stored at the CRB-Cancer of the Bordeaux University Hospital and annotated in the DATAML…
- Trial name
- COALA (NCT05499611)
- Where
- France
- Volunteers
- 120 people
- Sponsor
- University Hospital, Bordeaux