Clinical trials: Sequence Analysis
Vasculitis
Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis
The FAMILYVASC study is a prospective observational study which will aim to identify susceptibility loci and genes for systemic vasculitis risk in patients with familial or pediatric forms of vasculitis.
- Trial name
- FAMILYVASC (NCT04006535)
- Testing
- genetic analysis
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Benjamin Terrier
Multiple Myeloma
BCMA Polymorphisms in Patients With Multiple Myeloma
The aim of this study is to investigate the effect of B cell maturation antigen (BCMA, TNFRSF17) gene polymorphisms on treatment response and survival in patients with multiple myeloma.
- Trial name
- BCMA in MM (NCT07906418)
- Testing
- BCMA polymorphism analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Başakşehir Çam & Sakura City Hospital
Human Milk
Developing Remote Human Milk Collection as a Novel Technique for Transcriptome Sequencing
This study will develop a protocol for remote human milk collection for use in gene expression research through application of ribonucleic acid (RNA) preservation reagents.
- Trial name
- NCT07118852
- Testing
- Remote Human Milk Sample Collection
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Neoplasms, Cancer
PRediction Of Five Usual Tumors Using Blood Test for Risk Assessment and Early Detection
Liquid biopsy technology based on cell-free nucleic acids and protein characteristics has unique advantages and significant application prospects in cancer early detection.
- Trial name
- PROFUTURE (NCT05874648)
- Testing
- Multi-cancer early detection test
- Where
- China
- Volunteers
- 3,830 people, healthy volunteers welcome
- Sponsor
- Sixth Affiliated Hospital, Sun Yat-sen University
Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder
Neurogenetics and Multi-omics of Neuroinflammatory Diseases in Multiplex Families to Improve Patients Health
The goal of this observational study is to learn why some families have several members with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), or MOG antibody-associated disease (MOGAD).
- Conditions
- Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, MOG Antibody-Associated Disease, Demyelinating Autoimmune Diseases, CNS
- Trial name
- NeuroDIP (NCT07902479)
- Testing
- Blood sampling and multi-omic profiling
- Where
- 5 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Pulmonary Nodules
Diagnostic and Monitoring Significance of ctDNA Methylation Analysis by NGS in Benign and Malignant Pulmonary Nodules
AnchorDx is using circulating tumor DNA (ctDNA) methylation analysis by next-generation sequencing (NGS) to develop a blood-based assay for differentiating benign and malignant pulmonary nodules early.
- Trial name
- NCT03651986
- Testing
- ctDNA methylation analysis by NGS
- Where
- 23 sites in China
- Volunteers
- 10,560 people, healthy volunteers welcome
- Sponsor
- AnchorDx Medical Co., Ltd.
Cancer, Breast Cancer
Liquid Biopsy Evaluation and Repository Development at Princess Margaret
The objective of this protocol is to develop an institution-wide liquid biopsy protocol that will establish a common process for collecting blood and corresponding archived tumor specimens for future research studies at the…
- Conditions
- Cancer, Breast Cancer, Lung Cancer, Colon Cancer
- Trial name
- LIBERATE (NCT03702309)
- Where
- Canada
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Unilateral Lower Limb Suspension
Single Nuclei Sequencing in Human Skeletal Muscle After Unloading
Injuries often require people to undergo some degree of limb immobilization. This comes at a high cost in terms of muscle mass and function losses.
- Trial name
- ULLS23 (NCT05801185)
- Testing
- Unilateral lower limb suspension
- Where
- Sweden
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Karolinska Institutet
MRSA
Tracing MRSA in Households With Patients Infected With CA-MRSA by WGS
From the 1980s to the late 1990s, highly toxic methicillin-resistant Staphylococcus aureus (MRSA) strains (called community-associated [CA] MRSA) appeared in the community.
- Trial name
- NCT04312776
- Testing
- none intervention
- Where
- China
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Sir Run Run Shaw Hospital
PANS, Pediatric Acute-Onset Neuropsychiatric Syndrome
Biomarkers for Diagnosis and Treatment Response in Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS)
Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is a complex neuropsychiatric disorder characterized by the abrupt onset of symptoms and currently diagnosed mainly on clinical criteria, as reliable diagnostic biomarkers…
- Trial name
- BIOMA-PANS (NCT07718958)
- Testing
- Psycodiagnostic evaluation, Polysomnography, 1H-NMR analysis
- Where
- 5 sites in Italy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Cagliari
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
Pulmonary Hypertension
Registration Study for Rare Type of Pulmonary Hypertension
The knowledge on the rare type of pulmonary hypertension which can not be explained by left heart disease, respiratory disease or congenital heart disease is very limited.
- Trial name
- NCT03169010
- Testing
- laboratory biomarker analysis, Genetic analysis
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- China National Center for Cardiovascular Diseases
Trisomy 21 - Translocation
Trisomy of Chromosome 21 Diagnosis by High Output Sequencing
Demonstrate that the High output shotgun sequencing of the foetal DNA in the maternal blood could allow a complete discrimination between the mothers of a trisomic fetus 21 or a DISOMIQUE foetus 21 from the first quarter of the…
- Trial name
- SEQ21 (NCT01118507)
- Where
- 2 sites in France
- Volunteers
- 976 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Wellbeing, Healthy
PROMOTE: The Effect of a Six Week Prebiotic Supplementation on Wellbeing of Young Adults.
The study will investigate whether taking a prebiotic for six weeks helps to reduce morning cortisol levels in healthy young adults with mild to moderate stress compared to a placebo.
- Conditions
- Wellbeing, Healthy, Mental Health
- Trial name
- PROMOTE (NCT06566157)
- Testing
- Prebiotic, Maltodextrin (Corn)
- Where
- United Kingdom
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Southampton
Healthy Adults, Genetic Predisposition to Disease
Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into clinical medical care in the military…
- Trial name
- MilSeq (NCT03276637)
- Testing
- Whole exome sequencing
- Where
- 3 sites in United States
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
HNSCC
WGA in Platinum-refractory HNSCC Underwent Nivolumab
To choose a subgroup who could clearly benefit from Nivolumab, we are proposing a prospective observational study. Whole-genome study (WGS) analysis will be performed on archived cancer tissues from patients who were (1)…
- Trial name
- NCT03917537
- Testing
- HNSCC patients have used Nivolumab
- Where
- 2 sites in Taiwan
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
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
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)
Melanoma, Non-small Cell Lung Cancer
Use of Serial Plasma NGS as a New Efficacy Metric to Guide Immunotherapy Treatment Discontinuation
The goal of this prospective study to investigate the use of circulating tumor DNA (ctDNA) to guide end of therapy decisions in patients with melanoma or non-small-cell lung cancer.
- Trial name
- NCT06146920
- Testing
- Evaluation of ctDNA using the F1T after 1 year of immunotherapy
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Neurosensory Diseases, Retinopathy
Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date.
- Conditions
- Neurosensory Diseases, Retinopathy, Hearing Loss
- Trial name
- GEN-NEUROSENS (NCT02558478)
- Testing
- blood sampling
- Where
- France
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France