Clinical trials: Genome
Rare Diseases, Genetic Predisposition to Disease
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome…
- Trial name
- NCT04315727
- Testing
- WGS Diagnostic Blood take for genetic diagnostic., Hair collection
- Where
- 2 sites in Germany
- Volunteers
- 100 people
- Sponsor
- University Hospital Tuebingen
Typhoid Fever
Global Genomic and Proteomic Profiling of African Children With Typhoid Fever
To develop a rapid, sensitive, and inexpensive diagnostic method, as well as more efficacious vaccine, for countries where typhoid fever remains a major public health burden.
- Trial name
- NCT02947295
- Where
- Nigeria
- Volunteers
- 969 people
- Sponsor
- University of Nebraska
Neoplasms, Cancer
Omics of Cancer: OncoGenomics
Background: Cancer is a leading cause of death in the United States. Researchers want to know more about how cancer develops and grows. They want to understand more about cancers that run in families.
- Trial name
- NCT05431439
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)
Melanoma
Application of Genomic Techniques and Image Processing Using Artificial Intelligence to Obtain a Predictor Model Risk of Melanoma
The aim of this study is to develop a predictive model of risk of developing melanoma. The investigators will used artificial intelligence techniques to analysed images patterns obtained by clinical and dermoscopic pictures.
- Trial name
- NCT02511119
- Volunteers
- 300 people
- Sponsor
- Maimónides Biomedical Research Institute of Córdoba
Breast Cancer
Evaluating Omitting of Internal Mammary Irradiation Among Early Stage Intermediate Risk (N1) Breast Cancer
The effect of internal mammary irradiation (IMI) added to whole-breast or thoracic-wall irradiation plus supraclavicular (SVC) irradiation after surgery on survival among women with early-stage intermediate risk (N1) breast…
- Trial name
- NCT04517266
- Testing
- omit of IMI group, IMI group
- Where
- China
- Volunteers
- 214 people
- Sponsor
- Ruijin Hospital
Heart Failure
Genomic Response Analysis of Heart Failure Therapy in African Americans
The response to therapy with a fixed dose combination of isosorbide dinitrate and hydralazine (FDC I/H) is enhanced in African Americans with heart failure and reduced ejection fraction (HFrEF) when compared to similar white…
- Trial name
- GRAHF-2 (NCT02305095)
- Testing
- FDC I/H
- Where
- 19 sites in United States
- Volunteers
- 225 people
- Sponsor
- University of Pittsburgh
Intellectual Disability, Multiple Congenital Anomaly
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and…
- Conditions
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- Trial name
- NCT03424772
- Testing
- Whole genome sequencing
- Where
- 14 sites in China
- Volunteers
- 100 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Non-small Cell Lung Cancer
Deciphering Antitumour Response and Resistance With INtratumour Heterogeneity
DARWIN II is a multi-arm non-randomised phase II trial, Eligible patient will be those who relapse with NSCLC (clinical trials.gov ref. NCT02183883). .
- Trial name
- DARWINII (NCT02314481)
- Testing
- MPDL3280A, Vemurafenib, Alectinib
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- University College, London
Genetic Disease, Genetic Syndrome
Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing.
- Trial name
- NCT03918707
- Testing
- Rapid Whole Genome Sequencing (rWGS)
- Where
- United States
- Volunteers
- 115 people
- Sponsor
- University of Illinois College of Medicine at Peoria
Atrial Fibrillation, Deep Vein Thrombosis
A Genomic Approach to Warfarin Dose Prescription in Admixed Caribbean Hispanics
Caribbean Hispanics are a population with a disproportionately high prevalence of cardio-metabolic disorders but with a limited expectation of benefits from current pharmacogenetic algorithms derived mainly in subjects of…
- Conditions
- Atrial Fibrillation, Deep Vein Thrombosis, Cardiac Valvular Insufficiency, Coagulopathies
- Trial name
- NCT02345356
- Testing
- Genotype-guided, Standard-of-Care
- Where
- 3 sites in United States, Puerto Rico
- Volunteers
- 200 people
- Sponsor
- University of Puerto Rico
Vagina Disease, Diagnosis
Feasibility of the Oricol™ Sampling Device to Retrieve Vagina Mucus (Wall) Samples for Genomic & Epigenetic Analysis.
Primary Objective The primary objective is to explore the feasibility of collecting a vaginal sample using the OriCol™ Sampling Device. Secondary Objectives The study has secondary objectives to assess: 1.
- Trial name
- Ellele-01 (NCT05709119)
- Testing
- Quantification of human DNA retrieved and DNA fragmentation profile.
- Where
- United Kingdom
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Origin Sciences
Sarcoma
GENomic PROfilation for Therapeutic Purposes in SARComas and Molecular Tumor Board (MTB): Retrospective/Prospective Study in Referral Centers
Multicenter noninterventional, translational study, retrospective/prospective designed in order to assess the aptitude to the use of genomic profiling methods for therapeutic purposes and evaluation by the institutional Molecular…
- Trial name
- PROGEN_SARC (NCT06076070)
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Regina Elena Cancer Institute
BRCA-Associated Breast Carcinoma
Breast Cancer After Ovarian Cancer During and/or After Therapy: Genomic Evaluation
This study will investigate, in patients with germline BRCA-1/2 mutations and breast cancer, arising during and / or after treatment with platinum-based chemotherapy and / or with PARP-inhibitors for ovarian cancer, the presence…
- Trial name
- Gen-eva (NCT05763472)
- Testing
- Next-generation sequencing (NGS) assay TruSight Oncology 500 (TSO 500).
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Genetic Predisposition to Disease
Assesment of Multiomics Profiles in Health and Disease.
This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population and will evaluate its correlation with the disease phenotype.
- Trial name
- ENIGMA (NCT04427163)
- Testing
- Blood sample analysis, Health status, Race and ethnicity
- Where
- Czechia
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- The Institute of Molecular and Translational Medicine, Czech Republic
Rheumatic Heart Disease, Mitral Stenosis
Genetic Susceptibility to Rheumatic Heart Disease in the Pacific Region
The purpose of this study is to investigate whether there are genetic differences between patients with rheumatic heart disease and members of the general population.
- Trial name
- NCT02188862
- Where
- 3 sites in Fiji, New Caledonia and 1 more
- Volunteers
- 2,372 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Melanoma, Pancreas Cancer
Integration of Whole-Genome Sequencing PrOfiles and ImmuNe StATus in Cancer
The goal of this investigator-initiated tumour profiling study is to analyse the relation between genomic alterations and the tumour immune contexture in patients with advanced melanoma and pancreatic cancer with resistance to…
- Trial name
- SONATA (NCT07796594)
- Testing
- Biopsy
- Where
- Netherlands
- Volunteers
- 180 people
- Sponsor
- Amsterdam UMC, location VUmc
Cystic Fibrosis (CF), Mucoviscidosis
Environmental Reservoirs of Non-tuberculous Mycobacteria in Cystic Fibrosis Households
This multicenter, non-interventional case-control study investigates whether household environmental reservoirs, particularly water systems, are associated with non-tuberculous mycobacterial (NTM) infections in people with cystic…
- Conditions
- Cystic Fibrosis (CF), Mucoviscidosis, Non-Tuberculous Mycobacteria, Mycobacterium Abscessus Infection
- Trial name
- NTMecoCF (NCT07369414)
- Testing
- Multi-modal NTM diagnostic including PCR, WGS, culture
- Where
- 2 sites in Germany
- Volunteers
- 120 people
- Sponsor
- Research Center Borstel
SARS CoV-2, Kawasaki Disease
Genome Analysis of Human Endogenous Retroviruses (HERVs)(COVID19)
Human Endogenous Retroviruses (HERVs) are ancient sequences that became integrated into our DNA during evolutionary processes. The significance of their presence in DNA is still being studied, but HERVs appear to be involved in…
- Conditions
- SARS CoV-2, Kawasaki Disease, Retrovirus Infection
- Trial name
- HERV_COVID (NCT06775457)
- Testing
- sample collection
- Where
- 5 sites in Italy
- Volunteers
- 120 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
SARS-CoV Infection
COVID-19 Persistence in Stool
This is a longitudinal study in which participants that have been confirmed by a National Health Service (NHS) swab test as COVID-19 positive will be asked to provide faecal and saliva samples, and complete short health/lifestyle…
- Trial name
- CoPS (NCT04546776)
- Where
- 3 sites in United Kingdom
- Volunteers
- 105 people
- Sponsor
- Quadram Institute Bioscience
Abnormal Karyotype
The Effectiveness of Blastocentesis Versus Trophectoderm Biopsy
For the purpose of this study, the investigators will perform the removal of trophectoderm (TE) the cells as required for the purpose of pre-implantation genetic screening, in order to perform the genetic analysis.
- Trial name
- NCT02915276
- Testing
- Blastocentisis, Trophectoderm biopsy
- Where
- United Kingdom
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Center for Reproductive an Genetic Health
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