Clinical trials: Copy Number Variation
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
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
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
Migraine
Copy Number Variation in CHRNA7 Gene in Migraine and Gene Expression
Migraine is a common and possible hereditary disease. Copy number variation (CNV) is a phenomenon in which parts of the genome are repeated and the number of repeats in the genome varies between individuals in the human…
- Trial name
- NCT04912752
- Testing
- Migraine CNV
- Where
- Turkey (Türkiye)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Gaziantep
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
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
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
Sarcoma
DNA Biomarkers in Samples From Patients With Osteosarcoma and Healthy Volunteers
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01139983
- Testing
- DNA analysis, RNA analysis, fluorescence in situ hybridization
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Oncology Group
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
Attention Deficit Hyperactivity Disorder
PART A: Efficacy and Safety of AEVI-001 in Children and Adolescents With ADHD and With mGluR Mutations
This is PART A of a 2-part, 6-week, double-blind, dose-optimization, parallel-group study in children and adolescents (ages 6-17 years) with ADHD with and without CNVs in specific genes implicated in glutamatergic signaling and…
- Trial name
- NCT03265119
- Testing
- AEVI-001
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
Attention Deficit Hyperactivity Disorder
PART B: Efficacy and Safety of AEVI-001 in Children and Adolescents With ADHD and Without mGluR Mutations
This is PART B of a 2-part, 6-week, double-blind, dose-optimization, parallel-group study in children and adolescents (ages 6-17 years) with ADHD with and without CNVs in specific genes implicated in glutamatergic signaling and…
- Trial name
- NCT03609619
- Testing
- AEVI-001
- Where
- United States
- Volunteers
- 109 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
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
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
Multiple Abnormalies
Microarray Application in Newborns With Multiple Congenital Anomalies
Objective: Congenital anomalies are defined as abnormalities of body structure or function that are present at birth and have developed prenatally.
- Trial name
- CNV-MCA (NCT06694896)
- Testing
- Microarray Application
- Where
- Turkey (Türkiye)
- Volunteers
- 63 people
- Sponsor
- Konya City Hospital
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
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
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)
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