Clinical trials: Copy Number Variation
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
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
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
Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer
A Study of a Selective ERBB2 Inhibitor (CGT4255), in Patients With Advanced Solid Tumors
This is an open-label, phase 1/1b study evaluating the safety, tolerability, pharmacokinetic (what the body does to the drug), pharmacodynamic (what the drug does to the body), and antitumor activity of CGT4255 in adult…
- Conditions
- Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer, ERBB2 Gene Amplification, HER2 Overexpression
- Trial name
- NCT07361562
- Testing
- CGT4255
- Where
- 15 sites in United States
- Volunteers
- 100 people
- Sponsor
- Cogent Biosciences, Inc.
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)
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
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