Clinical trials: Genomic Testing
HIV Infections
Collection of Blood Samples From HIV Infected People
The purpose of this study is to collect blood samples from HIV infected individuals for use in future genetic studies.
- Trial name
- NCT00096772
- Where
- 83 sites in United States
- Volunteers
- 2,502 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cancer of Unknown Primary, Neoplasm, Unknown Primary
Enabling Genomic Testing in Cancer of Unknown Primary
Cancer of Unknown Primary (CUP) is where cancer cells are found in the body but the place the cancer began is not known. It is the 6th leading cause of cancer death in the UK and the prognosis is poor with a median survival of…
- Trial name
- EGGCUP (NCT06695494)
- Testing
- Gene panel array, Blood Sample Collection
- Where
- 6 sites in United Kingdom
- Volunteers
- 100 people
- Sponsor
- The Christie NHS Foundation Trust
Conduct Disorder, Oppositional Defiant Disorder
Genetic and Clinical Correlates of Disruptive Behavior Disorder With and Without Callous-Unemotional Traits
Disruptive Behavior Disorders (DBD), such as Conduct Disorder (CD) and Oppositional Defiant Disorder (ODD), affect children and adolescents in different ways.
- Conditions
- Conduct Disorder, Oppositional Defiant Disorder, Callous Unemotional Traits
- Trial name
- GENCU 2025 (NCT07322055)
- Where
- 2 sites in Italy
- Volunteers
- 200 people
- Sponsor
- IRCCS Fondazione Stella Maris
Advanced Cancer
Methods of Identifying Effective Off-Guideline Treatments for Advanced Cancer Patients
Many FDA-approved drugs are not available to patients with a particular cancer because there has been no successful clinical trial conducted for that drug against that cancer.
- Trial name
- CC N-of-1 (NCT07343024)
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Cancer Commons
Mitochondrial Myopathies, Mitochondrial DNA Mutation
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks.
- Conditions
- Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy
- Trial name
- NCT05012358
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Bleeding Disorder
Early Genomic Testing for Inherited Bleeding Disorders
The investigators aim to test the introduction of genomic testing early in the diagnostic pathway for inherited bleeding disorders in patients who have not received a diagnosis after first-line testing.
- Trial name
- GT4BD (NCT06736158)
- Testing
- Genetic testing for inherited bleeding disorders
- Where
- 3 sites in Canada
- Volunteers
- 212 people
- Sponsor
- Queen's University
Medulloblastoma, Medulloblastoma, Childhood
Individualized Treatment Plan in Children and Young Adults With Relapsed Medulloblastoma and Ependymoma
The current study will use a new treatment approach based on the molecular characteristics of each participant's tumor. The study will test the feasibility in the pilot phase of performing real-time drug screening on tissue taken…
- Conditions
- Medulloblastoma, Medulloblastoma, Childhood, Medulloblastoma Recurrent, Ependymoma
- Trial name
- PNOC027 (NCT05057702)
- Testing
- Specialized Tumor Board Treatment Plan, Combinations
- Where
- 9 sites in United States
- Volunteers
- 74 people
- Sponsor
- University of California, San Francisco
Gene Abnormality, Acute Aortic Syndrome
Genetic Profile in Patients With Aortic Syndrome
The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques.
- Trial name
- GEN-AOR (NCT04751058)
- Testing
- genetic analysis
- Where
- 2 sites in Spain
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Hospitales Universitarios Virgen del Rocío
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
Severe Combined Immunodeficiency
Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
Severe combined immunodeficiency (SCID), a rare primary immunodeficiency dieases (PID), is poorly characterized in mainland China.
- Trial name
- NCT02231983
- Testing
- gene sequencing
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Shanghai Children's Medical Center
Malaria, Falciparum Malaria
Malaria Molecular Surveillance in Mozambique (Phase 2)
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 10.3 million cases in 2021.
- Conditions
- Malaria, Falciparum Malaria, Malaria in Pregnancy
- Trial name
- GenMoz2 (NCT06529237)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 18,750 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
Non-small-cell Lung Cancer
Treatment and Biomarker Testing Patterns,Treatment Outcomes in a/m NSCLC With and Without Actionable Genomic Alterations
Planned study population consists of approximately 1500 adult patients with a/m NSCLC in Russia, in about 20 oncological centers (in each center it is expected to recruit about 75 patients) in different regions of Russia in order…
- Trial name
- NCT06245837
- Where
- 16 sites in Russia
- Volunteers
- 1,500 people
- Sponsor
- AstraZeneca
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
Alpha-Thalassemia
Genetic Profile of Alpha Thalassemia Children at Sohag University Hospital .
Genetic profile of alpha thalassemia children at sohag university hospital ,the aim to determine the prevelance , molecular character of the disorder, characterized by decreased synthesis of alpha -globin Recent work to provide…
- Trial name
- NCT06591936
- Where
- Egypt
- Volunteers
- 50 people
- Sponsor
- Sohag University
Ewing Sarcoma, Osteosarcoma
Drug Sensitivity and Mutation Profiling
This study is a prospective, non-randomized observational study. Freshly isolated tumor cells will be tested for chemosensitivity to the standard of care drugs as single agents and in combinations using state-of-the-art viability…
- Conditions
- Ewing Sarcoma, Osteosarcoma, Rhabdomyosarcoma, Wilms Tumor
- Trial name
- NCT04956198
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Florida International University
Autism Spectrum Disorder (ASD
EEG As a Genetic Selection Lever in Autism Spectrum Disorder
Autism Spectrum Disorder (ASD) is a growing public health concern, with genetic causes identified in about 20% of cases. While exome/genome sequencing is powerful, its cost and limited yield call for better patient selection.
- Trial name
- EAGLE (NCT07891065)
- Testing
- Collection of routine care data
- Where
- 2 sites in France
- Volunteers
- 80 people
- Sponsor
- Centre Hospitalier Régional Metz-Thionville
Endometrial Neoplasms
Characterization of the Genetic Profile of Type 2 Endometrial Carcinoma in Martinique
In Martinique, about 33 new cases are diagnosed per year, with a high incidence rate of type 2 endometrial carcinoma which has a poor prognosis with few therapeutic options.
- Trial name
- ENDO-NGS-MQ (NCT03766672)
- Testing
- Intervention Arm
- Where
- Martinique
- Volunteers
- 30 people
- Sponsor
- University Hospital Center of Martinique
Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy
The HIEnome Study: Genome Sequencing for Perinatal HIE
Perinatal hypoxic-ischemic encephalopathy is a rare severe condition in which neonates present with encephalopathy and a clinical history suggestive of prenatal or perinatal hypoxic-ischemic injury.
- Conditions
- Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE)
- Trial name
- NCT06762795
- Testing
- Genome sequencing
- Where
- 2 sites in United States
- Volunteers
- 25 people
- Sponsor
- Baylor College of Medicine
Hereditary Diseases
Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling
The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary…
- Trial name
- NCT05453474
- Testing
- Whole genome amplification
- Where
- Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Aalborg University Hospital
Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia
Ex Vivo Drug Sensitivity Testing and Mutation Profiling
This study is a prospective, non-randomized feasibility study. Freshly isolated tumor cells from patients will be screened using state-of-the-art viability assay designed for ex vivo high-throughput drug sensitivity testing…
- Conditions
- Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia, Recurrent Childhood Large Cell Lymphoma, Refractory Childhood Acute Lymphoblastic Leukemia
- Trial name
- NCT03860376
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Florida International University