Clinical trials: Sequence Analysis
Neurogenetic Diseases
Advancing Neurogenetic Diagnoses Through Long-Read Sequencing
Nucleotide repeats emerge as one of the most prolific classes of genetic variations. They have the propensity to in-crease in length across generations, and have been implicated in at least 65 known neurological/…
- Trial name
- NRGEN-NGS3 (NCT07665554)
- Testing
- Skin biopsy, blood sampling
- Where
- 2 sites in France
- Volunteers
- 304 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Urinary Incontinence, Daytime Wetting
The Voided Urinary, Perineal, and Faecal Microbiota Among Children and Adolescents - the PpUF-study.
The aim of this study is to investigate whether the voided urinary, perineal/preputial, and the fecal microbiota are different between children suffering from Overactive Bladder (OAB) and Daytime Urinary Incontinence (DUI)…
- Conditions
- Urinary Incontinence, Daytime Wetting, Urination Disorders, Urologic Diseases
- Trial name
- NCT07535619
- Where
- 4 sites in Denmark
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Aalborg University 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)
Malaria,Falciparum, Malaria in Pregnancy
Plasmodium Falciparum Genomic Intelligence in Mozambique
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 9.3 million cases in 2018, and constitutes a core target for the World Health Organization (WHO) and the Roll Back Malaria…
- Conditions
- Malaria,Falciparum, Malaria in Pregnancy, Malaria
- Trial name
- GenMoz (NCT05306067)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 21,848 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
Glioma
Glioma Patients Registry Based on Radiological, Histopathological and Genetic Analysis
This prospective study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic sequencing data.
- Trial name
- NCT04220424
- Testing
- MR and Histopathology images based prediction of molecular pathology and patient survival
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
Gynecologic Malignant Tumor
The Study of Massively Parallel Sequencing in Early Detection for Gynecologic Malignant Tumor
As human aging, 50% of women will be faced with the threat of cancer, especially gynecological malignancies. Ovarian, cervical and endometrial cancer are three major gynecological malignancies.
- Trial name
- NCT02166515
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Zhiqing, Liang
Genotyping Techniques
Method Comparison Study of the Spartan FRX CYP2C19 Genotyping System Against Bi-directional Sequencing
The Spartan FRX CYP2C19 Test System (hereafter referred to as the 'FRX System') is a qualitative in vitro diagnostic test for the identification of a patient's CYP2C19 *2, *3 and *17 genotypes from genomic DNA obtained from…
- Trial name
- NCT01718535
- Testing
- Spartan FRX CYP2C19 Test System
- Where
- Canada
- Volunteers
- 327 people, healthy volunteers welcome
- Sponsor
- Spartan Bioscience Inc.
PML, AIDS
Genetics of Progressive Multifocal Leukoencephalopathy and Acquired Immunodeficiency Syndrome
This study will identify genetic factors associated with the development of progressive multifocal leukoencephalopathy (PML) in patients with acquired immunodeficiency syndrome (AIDS).
- Trial name
- NCT00342602
- Where
- 6 sites in United States
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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)
Arterial Calcification Due to Deficiency of CD73
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching…
- Trial name
- NCT00369421
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Healthy, Breast-milk Collection
Omics Sequencing of Specimen Derived From Mother-Infant-Pairs
The investigators aim to collect breast-milk and feces from the participants, and apply culture techniques as well as omics sequencing technology to probe into the microbial and metabolomic signature of the specimens.
- Conditions
- Healthy, Breast-milk Collection, Feces
- Trial name
- NCT05462366
- Testing
- Sample collection
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Zhujiang Hospital
Still's Disease, Adult-Onset, Systemic Inflammation
Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related Conditions
Background: Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still s disease (AOSD).
- Conditions
- Still's Disease, Adult-Onset, Systemic Inflammation, Arthritis, Autoinflammatory Syndrome
- Trial name
- NCT03510442
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Microbial Colonization
Transfer of Microorganisms Between Green Areas and Humans
The goal of this study is to understand how visiting green areas affects the human microbiome through microbial transfer. Additionally, the project aims to understand which environmental, health and lifestyle factors can…
- Trial name
- NCT06574724
- Testing
- Visiting a green space
- Where
- Belgium
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Universiteit Antwerpen
Genetic Disease
An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal…
- Trial name
- BeginNGS (NCT06306521)
- Testing
- BeginNGS Test
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
Cancer Colon
Genetic Variants of Selected Genes in Colo-Rectal Cancer Patients.
Colorectal cancers (CRC) are the third most common human malignancy, and are also the leading cause of cancer related deaths worldwide.
- Trial name
- NCT02542670
- Testing
- Whole genome sequencing
- Where
- 2 sites in Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Sherief Abd-Elsalam
Motility Disorder of Intestine
Magnetic Resonance Imaging Assessment of Small Bowel Motility
This project involves the development, validation and application of a novel test using MRI to assess gastrointestinal motility a vital process that mixes the contents of our digestive tract.
- Trial name
- NCT02754869
- Where
- United Kingdom
- Volunteers
- 172 people, healthy volunteers welcome
- Sponsor
- University College, London
Congenital Diaphragmatic Hernia
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of…
- Trial name
- DHREAMS (NCT00950118)
- Where
- 14 sites in United States, Egypt
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Neuroblastoma
A Pilot Study on ALK Gene Mutations in Neuroblastoma
Neuroblastoma (NB) originates from the sympathetic nervous system and is one of the most common cancers in infants and children.
- Trial name
- NCT01986595
- Where
- Taiwan
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Hemoglobinopathies, Hemolysis
Clinical and Laboratory Investigation of Humans With Informative Iron or Erythroid Phenotypes
This study will examine blood for factors that may cause or prevent diseases involving iron or red blood cells. Iron is an important nutrient for human health that is needed to produce red blood cells.
- Conditions
- Hemoglobinopathies, Hemolysis, Iron Deficiency and Overload, Anemias
- Trial name
- NCT00102245
- Where
- United States
- Volunteers
- 334 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)