Clinical trials: Sequence Analysis
Streptococcus Pneumoniae Carriage, Pneumococcal Colonization
Whole Genome-Based Surveillance of Nasopharyngeal Pneumococcal Carriage in Vietnamese Children
This hospital-based cross-sectional study aims to determine the prevalence and serotype distribution of nasopharyngeal Streptococcus pneumoniae carriage among children aged 2-59 months hospitalized with acute respiratory symptoms…
- Conditions
- Streptococcus Pneumoniae Carriage, Pneumococcal Colonization, Acute Respiratory Symptoms
- Trial name
- NCT07562529
- Where
- Vietnam
- Volunteers
- 530 people
- Sponsor
- Phuc Huu Phan
Cardiomyopathy
Exome Sequencing Study in Cardiomyopathy to Identify New Risk Variants
Genetic mutations has been proved to be associated wth the onset of cardiomyopathy. In the present study, we intend to identify new related variants or genes.
- Trial name
- NCT03754101
- Where
- China
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Tongji Hospital
Acute Lymphoblastic Leukemia (ALL)
Genetic Study of Familial Acute Lymphoblastic Leukemia
Familial aggregation is well recognized in some cancers. Though a number of familial cancer predisposition syndromes have been described, the nature of inherited genetic alterations in patients with a strong history of familial…
- Trial name
- NCT03067584
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Atopy, Primary Immunodeficiency
NIAID Centralized Sequencing Protocol
Background: Genetic testing called "sequencing" helps researchers look at DNA. Genes are made of DNA and are the instructions for our bodies to function. We all have thousands of genes.
- Conditions
- Atopy, Primary Immunodeficiency, Autoimmunity, Autoinflammation
- Trial name
- NCT03206099
- Where
- 2 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Newborns
Newborn Sequencing Screening in China
The project will carry out the genetic testing of 10000 neonates. The aim of the project is to assess the application of targeted sequencing technology in the screening of neonatal diseases.
- Trial name
- NCT05476640
- Testing
- NGS
- Where
- China
- Volunteers
- 3,348 people
- Sponsor
- Shanghai Children's Hospital
Intellectual Deficiency
Medico-economic Evaluation of Different High-throughput Sequencing Strategies in the Diagnosis of Patients With Intellectual Deficiency
Intellectual deficiency (ID) is a veritable public health issue because it affects 1 to 3% of the population at large. Currently, in France, the diagnosis is based on clinical expertise, the use of DNA microarray analysis…
- Trial name
- DISSEQ (NCT03287206)
- Testing
- blood samples from children, blood samples from parents
- Where
- France
- Volunteers
- 337 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Encephalitis, Meningitis
Precision Diagnosis of Acute Infectious Diseases; Neuroinflammatory Cohort
This study aims to use a clinically validated metagenomic next-generation sequencing (mNGS) assay to provide a demonstration of precision medicine for diagnosis of acute infectious disease in hospitalized patients.
- Trial name
- PDAID (NCT02910037)
- Testing
- mNGS for pathogen detection
- Where
- 7 sites in United States
- Volunteers
- 214 people
- Sponsor
- University of California, San Francisco
B Acute Lymphoblastic Leukemia
Monitoring Minimal Residual Disease（MRD）in Pediatric B-acute Lymphoblastic Leukemia
This study aimed to investigate the performance of next-generation sequencing (NGS) techniques measuring immunoglobulin heavy chain (IgH)-variable, diversity, and joining (V[D]J) clonal rearrangements （IgH-V[D]J NGS） compared…
- Trial name
- NCT04977895
- Testing
- Minimal residual disease (MRD) monitoring
- Where
- China
- Volunteers
- 255 people
- Sponsor
- Sun Yat-sen University
Hypertension;Nephropathy
Whole Exome Sequencing in CKD Hypertension
The prevalence of hypertension in patients with CKD in China is high but the control rate is low. Compared with the single blood pressure measurement method of the blood pressure of the office, ambulatory blood pressure…
- Trial name
- WESCH (NCT03718585)
- Testing
- whole exome sequencing analysis
- Where
- China
- Volunteers
- 4,000 people
- Sponsor
- Fifth Affiliated Hospital, Sun Yat-Sen University
Necrotizing Enterocolitis
Application of Transcriptome Sequencing Combined With Family-Based Whole Genome Sequencing in Improving Precise Diagnosis of Critically Ill Newborns in Northeast China
Background: Birth defects and genetic diseases are major threats to infant health. Many genetic diseases present atypically in newborns, who often have critical conditions, rapid progression, and high mortality.
- Trial name
- NCT06990334
- Testing
- Whole genome sequencing analysis
- Volunteers
- 1,000 people
- Sponsor
- The First Hospital of Jilin University
Cancer
Genome Sequencing of Human Cancer Tissues
The goal of this study is to develop a new, local system that will use special tests based on patients' genetic makeup to better tailor cancer care at the University of New Mexico Cancer Center.
- Trial name
- NCT02105545
- Testing
- Cancer Treatment Options
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- New Mexico Cancer Research Alliance
Newborn, Hereditary Disease
The China Neonatal Genomes Project
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic…
- Conditions
- Newborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, Congenital
- Trial name
- CNGP (NCT03931707)
- Testing
- Genomic sequencing
- Where
- China
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Rare Diseases, Genetic Predisposition
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio…
- Trial name
- NCT03954652
- Testing
- WGS-Diagnostic
- Where
- Germany
- Volunteers
- 1,350 people
- Sponsor
- University Hospital Tuebingen
Chronic Kidney Disease(CKD), Genetic Kidney Disease
Genomic First Testing in Chronic Kidney Disease
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program…
- Trial name
- NCT06794567
- Testing
- Genetic Testing
- Where
- Canada
- Volunteers
- 2,400 people, healthy volunteers welcome
- Sponsor
- Dervla Connaughton
Neurodevelopmental Disorders, Intellectual Developmental Disorder
High Depth Exome Sequencing on DNA From a Salivary Sample by Mouth Smear.
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups.
- Trial name
- SEPASA (NCT07492199)
- Testing
- genetic
- Volunteers
- 50 people
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Vaccine-induced Thrombotic Thrombocytopenia Syndrome, Guillain-Barre Syndrome
Gene Sequencing as a Strategy for Identifying Genetic Factors Associated With Serious Adverse Events After Covid-19 Vaccines in Use in Brazil
This protocol proposes to investigate genetic factors that may be involved in the pathogenesis of adverse events of interest with selected covid-19 vaccines: vaccine-induced immune thrombotic thrombocytopenia, and neurological…
- Conditions
- Vaccine-induced Thrombotic Thrombocytopenia Syndrome, Guillain-Barre Syndrome, Acute Disseminated Encephalomyelitis, Transverse Myelitis
- Trial name
- NCT05630313
- Where
- Brazil
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- The Immunobiological Technology Institute (Bio-Manguinhos) / Oswaldo Cruz Foundation (Fiocruz)
Post Menopausal Women With Early Breast Cancer
Sequencing Of Endocrine Therapy In Post-Menopausal Women With Early Breast Cancer (FAST)
Quality of life under therapy with Aromasin® (exemestane) according to IBCSG (International Breast Cancer Study Group) questionnaire. Change of the endometrium after switching from tamoxifen to Aromasin® (exemestane).
- Trial name
- FAST (NCT01050634)
- Testing
- Aromasin (exemestane)
- Volunteers
- 980 people
- Sponsor
- Pfizer
Acute Lymphoblastic Leukemia, Pediatric
MRD Detection by NGS in Pediatric B-ALL
This retrospective analysis aims to investigate pediatric patients with B-cell acute lymphoblastic leukemia who were detected for minimal residual disease (MRD) using next-generation sequencing (NGS).
- Trial name
- NCT05973032
- Testing
- MRD
- Where
- China
- Volunteers
- 430 people
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine
COVID-19, Coronavirus 2019
Genetics of COVID-19 Susceptibility and Manifestations
Background: Coronavirus 2019 (COVID-19, or SARS-CoV-2) is a serious public health problem, and genetics may play a role in how serious the illness becomes in certain people.
- Trial name
- NCT04371432
- Where
- United States
- Volunteers
- 721 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Urinary Tract Infections, Sequelae of; Infection
mNGS for Therapy of Urinary Infectious Diseases
Urinary tract infection is a common infectious disease in clinic. Although urinary tract infection can be initially diagnosed by clinical sign and symptom, signs and urine routine, the application of appropriate antibiotic…
- Trial name
- PGS-U-UTI&UC (NCT05624476)
- Testing
- mNGS of urine cell-free DNA
- Volunteers
- 72 people
- Sponsor
- Shanghai Changzheng Hospital