Clinical trials: Genomic Structural Variation
Prenatal Diagnosis
Mapping of Genomic Structural Variations in Major Birth Defects
In the context of intricate cases with ambiguous prenatal genetic diagnoses, this project intends to carry out long - read DNA sequencing data analysis on birth defect cases and family samples.
- Trial name
- NCT07515976
- Testing
- Long - read DNA sequencing
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Epithelial Ovarian Cancer, Nucleotide Variant
Genetic Mutation in Epithelial Ovarian Cancer
Little is known about the characteristics of genetic mutation in a large multi-gene panel in epithelial ovarian cancer. This study is to explore the targeted genetic mutations via a multi-gene panel, which consists of more than…
- Conditions
- Epithelial Ovarian Cancer, Nucleotide Variant, Copy Number Variation, Insertion-deletion Variation
- Trial name
- NCT04191252
- Testing
- A multi-gene panel testing
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Lei Li
Healthy
Human Genomic Population Structure and Phenotype-genotype Variation in ADME Genes in Four Populations
Physicians know that their patients can react differently to the same medical treatment: for some of them, the drug will prove inefficient, whereas for others it might provoke side-effects, sometimes rather serious.
- Trial name
- NCT02789527
- Testing
- Phenotyping, Genotyping
- Where
- 4 sites in Czechia, Ethiopia and 2 more
- Volunteers
- 367 people, healthy volunteers welcome
- Sponsor
- Estella S. Poloni
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
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
Recurrent Cervical Cancer, Nucleotide Variant
Genetic Mutation in Recurrent Cervical Cancer
Little is known about the characteristics of genetic mutation in recurrent cervical cancer. This study is to explore the targeted genetic mutations via a multi-gene panel, which consists of more than 500 hundred genes.
- Conditions
- Recurrent Cervical Cancer, Nucleotide Variant, Copy Number Variation, Insertion-deletion Variation
- Trial name
- NCT04191226
- Testing
- Multi-gene panel testing
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Lei Li
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
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
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