Clinical trials: Genomic Structural Variation
Rare Diseases, Genetic Disease
Structural Chromosome Rearrangements and Brain Disorders
The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations.
- Conditions
- Rare Diseases, Genetic Disease, Chromosome Abnormality
- Trial name
- NCT06072079
- Where
- Sweden
- Volunteers
- 10,000 people
- Sponsor
- Karolinska Institutet
Premature Birth
Novel Epigenetic Biomarker for Prematurity Related Neurodevelopmental Disorders in Childhood
Preterms are early exposed to a stressful environment (i.e. excessive sensory stimulation and paucity of parental contact) with subsequent detrimental effects on brain maturation and neurodevelopmental outcomes.
- Trial name
- NCT04617587
- Testing
- Early Intervention
- Where
- Italy
- Volunteers
- 104 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
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
Neurodevelopmental Disorders
Omic Approaches to Neurodevelopmental Disabilities
to bridge the gap between the molecular structure of CNV and the effect on the phenotype, considering NDDs as complex diseases, as they are a consequence of the imbalance in several dosage-sensitive genes, we might try to…
- Trial name
- NCT06337396
- Testing
- WGS and transcriptome analysis
- Where
- Italy
- Volunteers
- 22 people
- Sponsor
- IRCCS Eugenio Medea
Breast Cancer, Colon Cancer
Genomic Structural Variation in Cancer Susceptibility
This study will look for new types of gene changes that may be related to cancer in some patients. Some gene changes (mutations) are passed on from parents to offspring (child).
- Conditions
- Breast Cancer, Colon Cancer, Germ Cell Cancer, Neuroblastoma
- Trial name
- NCT00996710
- Where
- United States
- Volunteers
- 1,275 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center