Clinical trials: Copy Number Variation
Dementia
Copy Number Variations, Inflammatory Cytokines and the Risk of Dementia
Assess the association of copy number variation (CNV) and inflammatory cytokine with the risk of dementia.
- Trial name
- NCT00878280
- Where
- Taiwan
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Copy Number Variations
Development of a NIPTT for Detecting Copy Number Variations
To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest…
- Trial name
- NCT04774640
- Testing
- MaterniT GENOME
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Sequenom, Inc.
Autism
Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without CNVs
The study aims to investigate whether neuropsychological function (particularly cognitive flexibility and executive function), functional (assessed by resting functional MRI, rfMRI) and structural connectivity (assessed by DSI)…
- Trial name
- NCT01582256
- Where
- Taiwan
- Volunteers
- 132 people
- Sponsor
- National Taiwan University Hospital
Primary Ovarian Insufficiency
Investigation of Copy Number Variations and Genetic Variants in POI
Primary ovarian insufficiency (POI), also known as premature ovarian failure, is an ovarian defect characterized by the premature (before the age of 40 years) depletion of ovarian follicles.
- Trial name
- POI (NCT05327283)
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Ospedale Policlinico San Martino
Genetic Diseases
Prenatal Microarray Follow-Up Study
The objectives of this multi-center collaborative study are to ascertain the frequency of specific copy number variants (CNVs) identified prenatally and to evaluate in detail through continued follow-up of the children the…
- Trial name
- NCT02160938
- Testing
- 3-year follow-up
- Where
- 9 sites in United States
- Volunteers
- 184 people
- Sponsor
- Columbia University
Autism Spectrum Disorder
A Family Study of Copy Number Variations in Patients With Autism Spectrum Disorder
This 3-year proposal is a family-based cohort study to establish a representative sample of probands with ASD and their parents with well-characterized environmental, clinical phenotypes, endophenotypes, and genetic data to…
- Trial name
- NCT02228876
- Where
- Taiwan
- Volunteers
- 360 people
- Sponsor
- National Taiwan University Hospital
Rheumatoid Arthritis
The Genetic and the Functional Study of DNA Repair System and the Susceptibility to Rheumatoid Arthritis
This study is valuable for the understanding the role of DNA repair system plays in the progression of rheumatoid arthritis and for the development of new therapeutic modality in the future.
- Trial name
- NCT01285336
- Where
- Taiwan
- Volunteers
- healthy volunteers welcome
- Sponsor
- China Medical University Hospital
Monoclonal Gammopathy of Undetermined Significance, Smoldering Myeloma
Study of DNA Copy Numbers Variations and Gene Expression Profile of Bone Marrow Plasma Cells From MGUS and SMM.
The purpose of this study is to describe DNA copy number variations and gene expression profiles of bone marrow plasma cells of monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM).
- Trial name
- GENOMGUS (NCT01079429)
- Testing
- Genetic study of DNA copies
- Where
- 27 sites in France
- Volunteers
- 1,200 people
- Sponsor
- Rennes University Hospital
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Evaluate the Association Between Certain Environmental Exposures (e.g. Cigarette Smoking, Alcohol Drinking, Betel Nut Chewing…) and Head and Neck Cancers, Assess the Effect of Genetic Factors, Including Both SNP and Copy Number Variation (CNV) Through Analysis of Both Main Effect and Gene-gene Interaction
International Cancer of the Head and Neck, Genetics and Environment (InterCHANGE) Study
Our overall objective is to understand the role of lifestyle factors, genetics and HPV infection in the development and prognosis of head and neck cancer particularly in Asia.
- Trial name
- InterCHANGE (NCT01972802)
- Where
- Taiwan
- Volunteers
- 900 people
- Sponsor
- National Taiwan University Hospital
Waardenburg Syndrome, Large Vestibular Aqueduct Syndrome
Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
The purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.
- Trial name
- NCT02418936
- Testing
- gene diagnostic kit
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Xiangya Hospital of Central South University
Autism Spectrum Disorder
Investigation of the HDAC4 Copy Number Variation and Its Effect on Gene and Protein Expression in Patients With ASD
Specific Aims of this study: 1. To understand the distribution of HDAC4 CNV in the families of the ASD patients with HDAC4 CNV; 2. To perform the analysis of gene expression; 3.
- Trial name
- NCT03670381
- Testing
- Psychiatric diagnosis
- Where
- Taiwan
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Attention Deficit Hyperactivity Disorder
A Non-interventional Study to Identify Children and Adolescents With ADHD and With or Without mGLuR Mutations
This is a non-interventional study in children and adolescents (ages 6-17 years) with attention deficit hyperactivity disorder (ADHD) to assess CNVs in specific genes involved in glutamatergic signaling and neuronal connectivity.
- Trial name
- NCT03233867
- Where
- United States
- Volunteers
- 2,503 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Copy Number Variation, Genome
Copy Number Variation in Prenatal Diagnosis
An observed study is aim to map the CNVs distribution in human genome of Chinese prenatal population. Setting: Prenatal diagnosis center of Taizhou City, Zhejiang Province Patient: total cases of pregnant women needed prenatal…
- Trial name
- NCT04561440
- Testing
- molecular karyotyping
- Where
- China
- Volunteers
- 16,000 people
- Sponsor
- YiYang Zhu
Non-small Cell Lung Cancer, ALK-Positive Lung Cancer
Plasma Molecular Profiling in ALK Inhibitor Resistant NSCLC
The investigators plan to understand a comprehensive molecular profiling via the plasma, with the primary aim of using this form on analysis to guide subsequent treatment selection.
- Trial name
- NCT04087473
- Where
- 5 sites in Hong Kong, Malaysia and 2 more
- Volunteers
- 50 people
- Sponsor
- National Cancer Centre, Singapore
Lung Cancer, Non-Small Cell Lung Cancer
Molecular Profiling Project
In this study, the investigators plan to undertake comprehensive molecular profiling of "actionable" alterations in lung cancer specimens in order to determine the prevalence of each genetic subtype in the local population.
- Trial name
- NCT04025515
- Where
- 10 sites in Brunei, Hong Kong and 4 more
- Volunteers
- 500 people
- Sponsor
- National Cancer Centre, Singapore
Obesity, Metabolic Syndrome
Genetics of Obesity in Chinese Youngs
The purpose of this study is to explore the pathogenesis and genetic susceptibility of obese subjects,providing a convincing argument for further treatment of obesity and metabolic syndrome.
- Trial name
- GOCY (NCT01084967)
- Where
- China
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Autism Spectrum Disorder (ASD)
Investigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
The goal of this observational study is to investigate the genetic and epigenetic mechanisms that may contribute to the development of Autism Spectrum Disorder (ASD) in individuals of different age groups.
- Trial name
- ASD-Omics-TR (NCT06662591)
- Where
- 20 sites in Turkey (Türkiye)
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Research and Treatment Society of Genetic Disorders
Acute Kidney Injury
Association of Copy Number Variations in the SMN Genes With Acute Kidney Injury After Heart Surgery
This prospective cohort study aims to explore the susceptibility to acute kidney injury after heart surgery in SMN1+/- genotype population.
- Trial name
- NCT04317196
- Where
- China
- Volunteers
- 1,206 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine